Variant report

Variant	rs34555781
Chromosome Location	chr6:31925697-31925698
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr6:31925525-31927640	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr6:31925358-31927689	IMR90	lung:	n/a	n/a
3	GATA3	chr6:31925130-31925873	SH-SY5Y	brain:	n/a	chr6:31925395-31925405 chr6:31925397-31925404 chr6:31925325-31925338 chr6:31925397-31925404 chr6:31925397-31925404

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31925660-31925710	HCT-116	colon:	n/a
2	chr6:31925660-31925710	Caco-2	colon:	n/a
3	chr6:31925660-31925710	GM12892	blood:	n/a
4	chr6:31925660-31925710	NT2-D1	testis:	n/a
5	chr6:31925660-31925710	RPTEC	kidney:	n/a
6	chr6:31925660-31925710	GM19239	blood:	n/a
7	chr6:31925660-31925710	HAEpiC	amniotic membrane:	n/a
8	chr6:31925660-31925710	NHDF-neo	bronchial:	n/a
9	chr6:31925660-31925710	AG10803	skin:	n/a
10	chr6:31925660-31925710	HUVEC	blood vessel:	n/a
11	chr6:31925660-31925710	ovcar-3	ovarian:	n/a
12	chr6:31925660-31925710	HIPEpiC	eye:	n/a
13	chr6:31925660-31925710	HMEC	breast:	n/a
14	chr6:31925660-31925710	HRE	kidney:	n/a
15	chr6:31925660-31925710	H1-hESC	embryonic stem cell:	embryo
16	chr6:31925660-31925710	HL-60	blood:	n/a
17	chr6:31925660-31925710	A549	lung:	n/a
18	chr6:31925660-31925710	BE2_C	brain:	n/a
19	chr6:31925660-31925710	HPAEpiC	pulmonary alveolar:	n/a
20	chr6:31925660-31925710	AG09319	gingival:	n/a
21	chr6:31925660-31925710	K562	blood:	n/a
22	chr6:31925660-31925710	GM06990	blood:	n/a
23	chr6:31925660-31925710	MCF10A-Er-Src	breast:	n/a
24	chr6:31925660-31925710	PANC-1	pancreas:	n/a
25	chr6:31925660-31925710	T-47D	breast:	n/a
26	chr6:31925660-31925710	SAEC	small airway:	n/a
27	chr6:31925660-31925710	U87	brain:	n/a
28	chr6:31925660-31925710	HEEpiC	esophagus:	n/a
29	chr6:31925660-31925710	HEK293	kidney:	embryo
30	chr6:31925660-31925710	HCM	heart:	n/a
31	chr6:31925660-31925710	AoSMC	blood vessel:	n/a
32	chr6:31925660-31925710	Jurkat	blood:	n/a
33	chr6:31925660-31925710	PFSK-1	brain:	n/a
34	chr6:31925660-31925710	HCPEpiC	choroid plexus:	n/a
35	chr6:31925660-31925710	IMR90	lung:	fetal
36	chr6:31925660-31925710	HepG2	liver:	n/a
37	chr6:31925660-31925710	HRPEpiC	eye:	n/a
38	chr6:31925660-31925710	ProgFib	skin:	n/a
39	chr6:31925660-31925710	HCF	heart:	n/a
40	chr6:31925660-31925710	Hela-S3	cervix:	n/a
41	chr6:31925660-31925710	ECC-1	luminal epithelium:	n/a
42	chr6:31925660-31925710	PrEC	prostate:	n/a
43	chr6:31925660-31925710	MCF-7	breast:	n/a
44	chr6:31925660-31925710	AG04449	skin:	fetal
45	chr6:31925660-31925710	AG04450	lung:	fetal
46	chr6:31925660-31925710	SK-N-MC	brain:	n/a
47	chr6:31925660-31925710	NHBE	bronchial:	n/a
48	chr6:31925660-31925710	GM12878	blood:	n/a
49	chr6:31925660-31925710	BJ	skin:	n/a
50	chr6:31925660-31925710	SK-N-SH	brain:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31781796..31783894-chr6:31925428..31927086,2	K562	blood:
2	chr6:31634033..31636196-chr6:31925448..31927170,2	K562	blood:
3	chr6:31844767..31847605-chr6:31925658..31928567,2	MCF-7	breast:
4	chr6:31862879..31872535-chr6:31911667..31928766,47	MCF-7	breast:
5	chr6:31830490..31833199-chr6:31923802..31927860,4	MCF-7	breast:
6	chr6:31864040..31872511-chr6:31917614..31930102,27	MCF-7	breast:
7	chr6:31864712..31866806-chr6:31924793..31927734,3	K562	blood:
8	chr6:31894560..31897888-chr6:31924484..31928410,3	K562	blood:
9	chr6:31829193..31831687-chr6:31925120..31927788,2	MCF-7	breast:
10	chr6:31799457..31804164-chr6:31924693..31928301,4	K562	blood:
11	chr6:31632061..31634821-chr6:31925160..31927798,3	MCF-7	breast:
12	chr6:31867895..31873109-chr6:31925613..31930389,7	K562	blood:
13	chr6:31800973..31803192-chr6:31924804..31927036,2	MCF-7	breast:
14	chr6:31845134..31847319-chr6:31924612..31926592,2	MCF-7	breast:
15	chr6:31925015..31926680-chr6:32161987..32163956,2	K562	blood:
16	chr6:31894560..31897888-chr6:31924484..31926934,4	K562	blood:

No data

Variant related genes	Relation type
MIR1236	TF binding region
SKIV2L	TF binding region
MIR1236	CpG island
SKIV2L	CpG island
ENSG00000204438	Chromatin interaction
ENSG00000263020	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000204390	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000244255	Chromatin interaction
ENSG00000204371	Chromatin interaction
ENSG00000204435	Chromatin interaction
ENSG00000201823	Chromatin interaction
ENSG00000213654	Chromatin interaction
ENSG00000204385	Chromatin interaction
ENSG00000204389	Chromatin interaction
ENSG00000204366	Chromatin interaction
ENSG00000166278	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10081127	0.81[AMR][1000 genomes]
rs13217120	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34140409	0.94[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs57393998	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs658808	0.85[AMR][1000 genomes]
rs71563389	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9283893	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9461731	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9469069	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9469072	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9501161	0.94[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9501598	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
2	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
3	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
5	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
6	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
7	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
9	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
10	nsv601950	chr6:31785438-32492308	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
11	nsv601951	chr6:31785438-32496748	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
12	nsv601955	chr6:31785453-32484368	Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
13	nsv601956	chr6:31785453-32492308	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
14	nsv601961	chr6:31868322-32484368	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
15	nsv427751	chr6:31871512-32092843	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
16	nsv428141	chr6:31871512-32092843	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
17	esv2758043	chr6:31871512-32209113	Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
18	esv2759415	chr6:31871512-32209113	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
19	nsv830628	chr6:31887554-31947600	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
20	nsv933250	chr6:31905060-32008005	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
21	nsv934279	chr6:31905060-32013902	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
22	nsv884512	chr6:31908470-31933161	Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
23	nsv884513	chr6:31922575-32066025	Bivalent Enhancer Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
24	nsv884514	chr6:31923052-31958960	Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
25	nsv932869	chr6:31924496-32013902	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
26	nsv933913	chr6:31924682-32009282	Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31914200-31926000	Weak transcription	Right Atrium	heart
2	chr6:31920000-31926000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:31923000-31925800	Weak transcription	Psoas Muscle	Psoas
4	chr6:31924200-31925800	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr6:31924400-31925800	Genic enhancers	Liver	Liver
6	chr6:31924600-31925800	Weak transcription	Small Intestine	intestine
7	chr6:31924600-31926000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:31924800-31925800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:31924800-31925800	Weak transcription	Right Ventricle	heart
10	chr6:31924800-31925800	Weak transcription	Stomach Mucosa	stomach
11	chr6:31924800-31926000	Weak transcription	Pancreas	Pancrea
12	chr6:31925000-31925800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:31925000-31925800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:31925000-31925800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:31925000-31925800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr6:31925000-31925800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:31925000-31925800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:31925000-31925800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr6:31925000-31925800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr6:31925000-31925800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr6:31925000-31925800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr6:31925000-31925800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:31925000-31925800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:31925000-31925800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:31925000-31925800	Weak transcription	Fetal Thymus	thymus
26	chr6:31925000-31925800	Weak transcription	Gastric	stomach
27	chr6:31925000-31925800	Weak transcription	Lung	lung
28	chr6:31925000-31925800	Weak transcription	Spleen	Spleen
29	chr6:31925000-31926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:31925000-31926000	Weak transcription	Esophagus	oesophagus
31	chr6:31925000-31926200	Weak transcription	Aorta	Aorta
32	chr6:31925200-31925800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:31925200-31925800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:31925200-31925800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr6:31925200-31925800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:31925200-31925800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr6:31925200-31925800	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr6:31925200-31925800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr6:31925200-31925800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:31925200-31925800	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr6:31925200-31925800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:31925200-31925800	Enhancers	Fetal Intestine Large	intestine
43	chr6:31925200-31925800	Weak transcription	Fetal Kidney	kidney
44	chr6:31925200-31925800	Enhancers	Fetal Stomach	stomach
45	chr6:31925200-31925800	Weak transcription	Left Ventricle	heart
46	chr6:31925200-31925800	Weak transcription	Ovary	ovary
47	chr6:31925200-31925800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr6:31925200-31925800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr6:31925200-31925800	Weak transcription	HSMMtube	muscle
50	chr6:31925200-31926000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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