Variant report

Variant	rs3187
Chromosome Location	chr6:44222047-44222048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:187)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:187 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:44220423-44223432	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:44213387-44225291	U87	brain:	n/a	n/a
3	POLR2A	chr6:44221717-44223550	HL-60	blood:	n/a	n/a
4	TAF7	chr6:44221939-44222704	K562	blood:	n/a	n/a
5	PML	chr6:44220368-44226860	GM12878	blood:	n/a	chr6:44223502-44223510
6	POLR2A	chr6:44214162-44225788	Hela-S3	cervix:	n/a	n/a
7	NFIC	chr6:44221906-44222783	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:44213384-44225291	U87	brain:	n/a	n/a
9	CEBPD	chr6:44221719-44223966	K562	blood:	n/a	n/a
10	BHLHE40	chr6:44222008-44223128	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:44220290-44224065	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr6:44214205-44227205	GM12891	blood:	n/a	n/a
13	POLR2A	chr6:44221976-44223816	PBDE	blood:	n/a	n/a
14	PBX3	chr6:44221746-44223514	A549	lung:	n/a	n/a
15	POLR2A	chr6:44219291-44223516	K562	blood:	n/a	n/a
16	POLR2A	chr6:44221567-44223422	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr6:44218235-44226207	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr6:44220531-44227269	GM19099	blood:	n/a	n/a
19	PML	chr6:44220349-44223383	K562	blood:	n/a	n/a
20	JUND	chr6:44221856-44222856	HepG2	liver:	n/a	n/a
21	BCLAF1	chr6:44221570-44223190	K562	blood:	n/a	n/a
22	ZNF143	chr6:44222031-44222474	K562	blood:	n/a	n/a
23	JUND	chr6:44221876-44223460	A549	lung:	n/a	n/a
24	POLR2A	chr6:44213452-44233528	GM12892	blood:	n/a	n/a
25	POLR2A	chr6:44220381-44226065	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr6:44213372-44233644	GM12891	blood:	n/a	n/a
27	SP4	chr6:44221923-44223254	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr6:44221928-44223227	Hela-S3	cervix:	n/a	n/a
29	POU2F2	chr6:44221834-44223417	GM12891	blood:	n/a	n/a
30	BCL3	chr6:44221565-44223530	K562	blood:	n/a	n/a
31	POLR2A	chr6:44220426-44224057	HCT-116	colon:	n/a	n/a
32	JUN	chr6:44221871-44226237	K562	blood:	n/a	n/a
33	POLR2A	chr6:44213396-44226181	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr6:44221904-44223507	GM12878	blood:	n/a	n/a
35	POLR2A	chr6:44213416-44233519	GM12878	blood:	n/a	n/a
36	EBF1	chr6:44222023-44222060	GM12878	blood:	n/a	n/a
37	PAX5	chr6:44221878-44223441	GM12878	blood:	n/a	n/a
38	POLR2A	chr6:44221842-44223404	HCT-116	colon:	n/a	n/a
39	POLR2A	chr6:44212831-44226077	HepG2	liver:	n/a	n/a
40	POLR2A	chr6:44219366-44224156	PANC-1	pancreas:	n/a	n/a
41	POLR2A	chr6:44213292-44226484	K562	blood:	n/a	n/a
42	POLR2A	chr6:44213785-44233471	GM12878	blood:	n/a	n/a
43	POLR2A	chr6:44220582-44224369	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr6:44213479-44233557	GM12892	blood:	n/a	n/a
45	RFX5	chr6:44221791-44222116	K562	blood:	n/a	n/a
46	POLR2A	chr6:44213515-44224070	PFSK-1	brain:	n/a	n/a
47	NRF1	chr6:44221919-44223037	H1-hESC	embryonic stem cell:	n/a	n/a
48	JUND	chr6:44221874-44223322	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr6:44220491-44224250	HUVEC	blood vessel:	n/a	n/a
50	JUND	chr6:44221581-44223485	SK-N-SH	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:44222046-44222096	HepG2	liver:	n/a
2	chr6:44222046-44222096	HRCEpiC	kidney:	n/a
3	chr6:44222046-44222096	A549	lung:	n/a
4	chr6:44222046-44222096	HEEpiC	esophagus:	n/a
5	chr6:44222046-44222096	BE2_C	brain:	n/a
6	chr6:44222046-44222096	HCPEpiC	choroid plexus:	n/a
7	chr6:44222046-44222096	IMR90	lung:	fetal
8	chr6:44222046-44222096	HCM	heart:	n/a
9	chr6:44222046-44222096	NT2-D1	testis:	n/a
10	chr6:44222046-44222096	NHBE	bronchial:	n/a
11	chr6:44222046-44222096	GM12891	blood:	n/a
12	chr6:44222046-44222096	HL-60	blood:	n/a
13	chr6:44222046-44222096	SKMC	muscle:	n/a
14	chr6:44222046-44222096	AG04450	lung:	fetal
15	chr6:44222046-44222096	HMEC	breast:	n/a
16	chr6:44222046-44222096	HRE	kidney:	n/a
17	chr6:44222046-44222096	NHDF-neo	bronchial:	n/a
18	chr6:44222046-44222096	SK-N-SH	brain:	n/a
19	chr6:44222046-44222096	NB4	blood:	n/a
20	chr6:44222046-44222096	HRPEpiC	eye:	n/a
21	chr6:44222046-44222096	GM12878	blood:	n/a
22	chr6:44222046-44222096	AG09319	gingival:	n/a
23	chr6:44222046-44222096	MCF-7	breast:	n/a
24	chr6:44222046-44222096	PANC-1	pancreas:	n/a
25	chr6:44222046-44222096	T-47D	breast:	n/a
26	chr6:44222046-44222096	ECC-1	luminal epithelium:	n/a
27	chr6:44222046-44222096	GM19239	blood:	n/a
28	chr6:44222046-44222096	AoSMC	blood vessel:	n/a
29	chr6:44222046-44222096	SK-N-MC	brain:	n/a
30	chr6:44222046-44222096	PFSK-1	brain:	n/a
31	chr6:44222046-44222096	NH-A	brain:	n/a
32	chr6:44222046-44222096	LNCaP	prostate:	n/a
33	chr6:44222046-44222096	GM12892	blood:	n/a
34	chr6:44222046-44222096	HPAEpiC	pulmonary alveolar:	n/a
35	chr6:44222046-44222096	HIPEpiC	eye:	n/a
36	chr6:44222046-44222096	MCF10A-Er-Src	breast:	n/a
37	chr6:44222046-44222096	HAEpiC	amniotic membrane:	n/a
38	chr6:44222046-44222096	K562	blood:	n/a
39	chr6:44222046-44222096	HCT-116	colon:	n/a
40	chr6:44222046-44222096	AG04449	skin:	fetal
41	chr6:44222046-44222096	ovcar-3	ovarian:	n/a
42	chr6:44222046-44222096	ProgFib	skin:	n/a
43	chr6:44222046-44222096	HCF	heart:	n/a
44	chr6:44222046-44222096	GM06990	blood:	n/a
45	chr6:44222046-44222096	RPTEC	kidney:	n/a
46	chr6:44222046-44222096	H1-hESC	embryonic stem cell:	embryo
47	chr6:44222046-44222096	HNPCEpiC	eye:	n/a
48	chr6:44222046-44222096	AG10803	skin:	n/a
49	chr6:44222046-44222096	SAEC	small airway:	n/a
50	chr6:44222046-44222096	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:44220564..44222715-chr6:44354509..44356656,2	MCF-7	breast:
2	chr6:44189603..44194222-chr6:44219459..44225598,7	MCF-7	breast:
3	chr17:7386545..7389187-chr6:44221331..44223122,2	K562	blood:
4	chr6:43596077..43597604-chr6:44220846..44222458,2	K562	blood:
5	chr6:44222007..44224336-chrX:118601679..118603705,2	K562	blood:
6	chr1:181056458..181058688-chr6:44221777..44223533,2	MCF-7	breast:
7	chr6:44099546..44105774-chr6:44219938..44225862,7	K562	blood:
8	chr6:44222000..44226440-chr6:44278583..44281839,6	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SLC35B2	hsa-miR-103a-3p	chr6:44222026-44222053

Variant related genes	Relation type
MIR4647	TF binding region
MIR4647	CpG island
ENSG00000162783	Chromatin interaction
ENSG00000224281	Chromatin interaction
ENSG00000174282	Chromatin interaction
ENSG00000181222	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000005022	Chromatin interaction
ENSG00000124608	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000112759	Chromatin interaction
ENSG00000096401	Chromatin interaction
SLC35B2	miRNA target site

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1128930	0.84[ASN][1000 genomes]
rs12202977	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12216216	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12664825	1.00[ASW][hapmap]
rs1570920	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2070695	0.82[ASN][1000 genomes]
rs3188	1.00[CEU][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs3757280	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3757285	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3757286	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55823111	0.87[EUR][1000 genomes]
rs760370	0.89[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9367190	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9381298	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9381299	0.85[CHB][hapmap];0.83[CHD][hapmap]
rs9381303	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9394994	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9394995	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9394996	1.00[ASW][hapmap];0.81[CHD][hapmap];0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv885852	chr6:44185901-44222718	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' 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	101 gene(s)	inside rSNPs	diseases
7	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
10	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44216200-44223800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
2	chr6:44216600-44223200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:44216600-44223400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr6:44216600-44223400	Strong transcription	Fetal Kidney	kidney
5	chr6:44216800-44223200	Strong transcription	Aorta	Aorta
6	chr6:44216800-44223400	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:44217000-44222200	Strong transcription	Primary B cells from cord blood	blood
8	chr6:44217000-44223200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:44217000-44223200	Strong transcription	Esophagus	oesophagus
10	chr6:44217000-44223200	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr6:44217200-44222200	Strong transcription	Fetal Intestine Small	intestine
12	chr6:44217200-44222200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr6:44217200-44222400	Strong transcription	Gastric	stomach
14	chr6:44217200-44222400	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr6:44217200-44222600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:44217200-44222800	Strong transcription	Fetal Muscle Leg	muscle
17	chr6:44217200-44223200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:44217200-44223200	Strong transcription	Colon Smooth Muscle	Colon
19	chr6:44217200-44223400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:44217200-44223600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:44217200-44223600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr6:44217200-44223800	Strong transcription	Placenta	Placenta
23	chr6:44217200-44223800	Strong transcription	Fetal Stomach	stomach
24	chr6:44217200-44223800	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr6:44217400-44222200	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:44217400-44223000	Strong transcription	Small Intestine	intestine
27	chr6:44217400-44223000	Genic enhancers	HepG2	liver
28	chr6:44217400-44223200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:44217400-44223200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:44217400-44223200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr6:44217400-44223200	Strong transcription	Primary T cells from cord blood	blood
32	chr6:44217400-44223200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:44217400-44223200	Strong transcription	NHDF-Ad	bronchial
34	chr6:44217400-44223400	Strong transcription	Fetal Lung	lung
35	chr6:44217400-44223800	Strong transcription	Fetal Intestine Large	intestine
36	chr6:44217600-44222200	Strong transcription	Fetal Brain Male	brain
37	chr6:44217600-44222400	Weak transcription	Right Atrium	heart
38	chr6:44217600-44222800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr6:44217600-44223200	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr6:44217600-44223200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:44217600-44223200	Strong transcription	HSMMtube	muscle
42	chr6:44217600-44223400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:44217600-44223400	Strong transcription	Lung	lung
44	chr6:44217600-44223400	Strong transcription	Ovary	ovary
45	chr6:44217600-44223400	Strong transcription	Rectal Smooth Muscle	rectum
46	chr6:44217600-44223600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr6:44217600-44223600	Strong transcription	Adipose Nuclei	Adipose
48	chr6:44217600-44223600	Strong transcription	HSMM	muscle
49	chr6:44217600-44223800	Strong transcription	Colonic Mucosa	Colon
50	chr6:44217600-44223800	Strong transcription	Monocytes-CD14+_RO01746	blood

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