Variant report

Variant	rs73728988
Chromosome Location	chr6:31850196-31850197
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr6:31850154-31850448	SK-N-SH_RA	brain:	n/a	n/a
2	FOSL2	chr6:31850054-31850639	SK-N-SH	brain:	n/a	chr6:31850376-31850385 chr6:31850377-31850386
3	POLR2A	chr6:31849911-31850614	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr6:31850182-31850462	HUVEC	blood vessel:	n/a	n/a
5	TCF12	chr6:31849985-31850724	SK-N-SH	brain:	n/a	chr6:31850446-31850453
6	POLR2A	chr6:31849980-31850539	HepG2	liver:	n/a	n/a
7	USF1	chr6:31850180-31850530	K562	blood:	n/a	n/a
8	JUND	chr6:31850058-31850759	SK-N-SH	brain:	n/a	chr6:31850376-31850385 chr6:31850377-31850386

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31850189-31850239	NB4	blood:	n/a
2	chr6:31850189-31850239	GM19239	blood:	n/a
3	chr6:31850189-31850239	U87	brain:	n/a
4	chr6:31850189-31850239	GM06990	blood:	n/a
5	chr6:31850189-31850239	HCPEpiC	choroid plexus:	n/a
6	chr6:31850189-31850239	HL-60	blood:	n/a
7	chr6:31850189-31850239	HCM	heart:	n/a
8	chr6:31850189-31850239	Hela-S3	cervix:	n/a
9	chr6:31850189-31850239	SKMC	muscle:	n/a
10	chr6:31850189-31850239	HCF	heart:	n/a
11	chr6:31850189-31850239	GM12878	blood:	n/a
12	chr6:31850189-31850239	CMK	blood:	n/a
13	chr6:31850189-31850239	SK-N-MC	brain:	n/a
14	chr6:31850189-31850239	AG09319	gingival:	n/a
15	chr6:31850189-31850239	HRPEpiC	eye:	n/a
16	chr6:31850189-31850239	H1-hESC	embryonic stem cell:	embryo
17	chr6:31850189-31850239	SK-N-SH	brain:	n/a
18	chr6:31850189-31850239	PrEC	prostate:	n/a
19	chr6:31850189-31850239	AG10803	skin:	n/a
20	chr6:31850189-31850239	HPAEpiC	pulmonary alveolar:	n/a
21	chr6:31850189-31850239	HRCEpiC	kidney:	n/a
22	chr6:31850189-31850239	HUVEC	blood vessel:	n/a
23	chr6:31850189-31850239	PANC-1	pancreas:	n/a
24	chr6:31850189-31850239	Jurkat	blood:	n/a
25	chr6:31850189-31850239	K562	blood:	n/a
26	chr6:31850189-31850239	MCF10A-Er-Src	breast:	n/a
27	chr6:31850189-31850239	ovcar-3	ovarian:	n/a
28	chr6:31850189-31850239	IMR90	lung:	fetal
29	chr6:31850189-31850239	Hepatocyte	liver:	n/a
30	chr6:31850189-31850239	T-47D	breast:	n/a
31	chr6:31850189-31850239	HEK293	kidney:	embryo
32	chr6:31850189-31850239	HIPEpiC	eye:	n/a
33	chr6:31850189-31850239	GM12891	blood:	n/a
34	chr6:31850189-31850239	A549	lung:	n/a
35	chr6:31850189-31850239	RPTEC	kidney:	n/a
36	chr6:31850189-31850239	HNPCEpiC	eye:	n/a
37	chr6:31850189-31850239	HRE	kidney:	n/a
38	chr6:31850189-31850239	LNCaP	prostate:	n/a
39	chr6:31850189-31850239	GM12892	blood:	n/a
40	chr6:31850189-31850239	SAEC	small airway:	n/a
41	chr6:31850189-31850239	NHDF-neo	bronchial:	n/a
42	chr6:31850189-31850239	NT2-D1	testis:	n/a
43	chr6:31850189-31850239	AG04449	skin:	fetal
44	chr6:31850189-31850239	HCT-116	colon:	n/a
45	chr6:31850189-31850239	HMEC	breast:	n/a
46	chr6:31850189-31850239	Caco-2	colon:	n/a
47	chr6:31850189-31850239	AG09309	skin:	n/a
48	chr6:31850189-31850239	NH-A	brain:	n/a
49	chr6:31850189-31850239	AoSMC	blood vessel:	n/a
50	chr6:31850189-31850239	AG04450	lung:	fetal

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31845164..31847169-chr6:31848727..31850469,2	MCF-7	breast:
2	chr6:31842997..31844783-chr6:31848909..31851075,2	MCF-7	breast:
3	chr6:31845454..31847099-chr6:31850009..31851570,2	MCF-7	breast:
4	chr6:31847413..31850386-chr6:31864016..31867954,3	MCF-7	breast:
5	chr6:31845609..31848674-chr6:31849036..31853301,8	K562	blood:
6	chr6:31846387..31850562-chr6:31859687..31861704,3	MCF-7	breast:
7	chr6:31846978..31851415-chr6:31853585..31859166,6	K562	blood:
8	chr6:31848956..31852953-chr6:31854836..31857628,4	MCF-7	breast:

No data

Variant related genes	Relation type
EHMT2-AS1	TF binding region
SLC44A4	TF binding region
EHMT2-AS1	CpG island
SLC44A4	CpG island
ENSG00000204371	Chromatin interaction
ENSG00000166278	Chromatin interaction
ENSG00000204385	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10947225	1.00[AFR][1000 genomes]
rs56194675	0.87[AFR][1000 genomes]
rs58368425	0.87[AFR][1000 genomes]
rs59402363	1.00[AFR][1000 genomes]
rs73728991	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73729005	0.87[AFR][1000 genomes]
rs9332712	1.00[AFR][1000 genomes]
rs9461723	1.00[AFR][1000 genomes]
rs9461730	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9469035	0.87[AFR][1000 genomes]
rs9469037	0.87[AFR][1000 genomes]
rs9469039	1.00[AFR][1000 genomes]
rs9469048	1.00[AFR][1000 genomes]
rs9469078	0.87[AFR][1000 genomes]
rs9501151	0.87[AFR][1000 genomes]
rs9501153	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 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	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
9	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
10	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
11	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription 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	257 gene(s)	inside rSNPs	diseases
12	nsv884428	chr6:31728102-31870326	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
13	nsv462872	chr6:31778272-31864304	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
14	nsv601945	chr6:31778272-31864304	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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
19	nsv462874	chr6:31794592-31864304	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
20	nsv601959	chr6:31794592-31864304	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
21	nsv884472	chr6:31813898-31870856	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
22	nsv508399	chr6:31829474-31902423	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
23	nsv884474	chr6:31836055-31870326	Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
24	nsv462875	chr6:31838441-31907147	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
25	nsv601960	chr6:31838441-31907147	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
26	nsv884475	chr6:31840625-31880320	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
27	nsv884476	chr6:31848000-31870326	Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31832000-31856000	Weak transcription	Right Atrium	heart
2	chr6:31832400-31850800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr6:31833200-31864200	Weak transcription	Fetal Heart	heart
4	chr6:31847000-31850200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:31847000-31857800	Strong transcription	Osteobl	bone
6	chr6:31847000-31860800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:31847000-31863200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr6:31847000-31863600	Strong transcription	Fetal Brain Female	brain
9	chr6:31847000-31864000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:31847200-31850200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:31847200-31857600	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr6:31847200-31860600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:31847200-31861400	Strong transcription	Spleen	Spleen
14	chr6:31847200-31863800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:31847200-31864000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:31847200-31864200	Strong transcription	Fetal Stomach	stomach
17	chr6:31847200-31864200	Strong transcription	Thymus	Thymus
18	chr6:31847400-31850200	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr6:31847400-31850200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:31847400-31850200	Strong transcription	NHLF	lung
21	chr6:31847400-31850400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr6:31847400-31851000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:31847400-31852600	Strong transcription	Pancreas	Pancrea
24	chr6:31847400-31852800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:31847400-31853000	Strong transcription	Brain Angular Gyrus	brain
26	chr6:31847400-31853200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr6:31847400-31853200	Strong transcription	Left Ventricle	heart
28	chr6:31847400-31853600	Strong transcription	Colon Smooth Muscle	Colon
29	chr6:31847400-31856200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:31847400-31857400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr6:31847400-31857600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:31847400-31857600	Strong transcription	Right Ventricle	heart
33	chr6:31847400-31858000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:31847400-31858000	Strong transcription	Lung	lung
35	chr6:31847400-31858200	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr6:31847400-31858200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr6:31847400-31858200	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr6:31847400-31860400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:31847400-31860800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:31847400-31861200	Strong transcription	Esophagus	oesophagus
41	chr6:31847400-31861600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:31847400-31861600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr6:31847400-31861600	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr6:31847400-31861600	Strong transcription	Brain Anterior Caudate	brain
45	chr6:31847400-31861600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr6:31847400-31862800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr6:31847400-31863200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:31847400-31863200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:31847400-31863400	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr6:31847400-31863600	Strong transcription	Brain Germinal Matrix	brain

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