Variant report

Variant	rs6441222
Chromosome Location	chr3:158449767-158449768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:158449553-158450806	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr3:158449747-158450300	HUVEC	blood vessel:	n/a	n/a
3	E2F6	chr3:158449150-158450961	H1-hESC	embryonic stem cell:	n/a	chr3:158450363-158450370 chr3:158450363-158450370 chr3:158450363-158450370 chr3:158450469-158450481 chr3:158449768-158449778
4	GTF2F1	chr3:158449566-158450180	Hela-S3	cervix:	n/a	n/a
5	MAX	chr3:158449465-158450931	A549	lung:	n/a	chr3:158449551-158449560
6	TCF3	chr3:158449672-158449995	GM12878	blood:	n/a	n/a
7	RAD21	chr3:158449698-158450183	A549	lung:	n/a	n/a
8	TEAD4	chr3:158449695-158449966	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr3:158449744-158450059	GM12878	blood:	n/a	n/a
10	E2F6	chr3:158449462-158450902	Hela-S3	cervix:	n/a	chr3:158450363-158450370 chr3:158450363-158450370 chr3:158450363-158450370 chr3:158450469-158450481 chr3:158449768-158449778
11	RFX5	chr3:158449565-158450713	Hela-S3	cervix:	n/a	n/a
12	MAX	chr3:158449639-158450457	A549	lung:	n/a	n/a
13	CEBPB	chr3:158449669-158450932	Hela-S3	cervix:	n/a	n/a
14	HA-E2F1	chr3:158449673-158450554	Hela-S3	cervix:	n/a	chr3:158450363-158450370 chr3:158450363-158450370 chr3:158450363-158450370 chr3:158450469-158450481 chr3:158449768-158449778
15	TCF7L2	chr3:158449320-158450575	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr3:158449654-158450275	HUVEC	blood vessel:	n/a	n/a
17	ELF1	chr3:158449615-158450289	GM12878	blood:	n/a	n/a
18	POLR2A	chr3:158449725-158450339	A549	lung:	n/a	n/a
19	E2F6	chr3:158449465-158450823	A549	lung:	n/a	chr3:158450363-158450370 chr3:158450363-158450370 chr3:158450363-158450370 chr3:158450469-158450481 chr3:158449768-158449778
20	CHD2	chr3:158449479-158450848	Hela-S3	cervix:	n/a	n/a
21	MAX	chr3:158449653-158450944	H1-hESC	embryonic stem cell:	n/a	n/a
22	SIN3A	chr3:158449403-158450925	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr3:158449321-158450115	H1-hESC	embryonic stem cell:	n/a	chr3:158449551-158449560
24	E2F6	chr3:158449637-158450249	A549	lung:	n/a	chr3:158449768-158449778
25	MAX	chr3:158449524-158450747	Hela-S3	cervix:	n/a	chr3:158449551-158449560
26	E2F6	chr3:158449280-158450135	H1-hESC	embryonic stem cell:	n/a	chr3:158449768-158449778
27	GABPA	chr3:158449639-158450288	A549	lung:	n/a	n/a
28	E2F1	chr3:158449687-158450376	Hela-S3	cervix:	n/a	chr3:158450363-158450370 chr3:158450363-158450370 chr3:158450363-158450370 chr3:158449768-158449778
29	MAZ	chr3:158449671-158450610	Hela-S3	cervix:	n/a	n/a
30	MXI1	chr3:158449197-158450673	IMR90	lung:	n/a	n/a
31	ELF1	chr3:158449727-158450103	GM12878	blood:	n/a	n/a
32	RCOR1	chr3:158449642-158450160	Hela-S3	cervix:	n/a	n/a
33	MXI1	chr3:158449625-158450051	Hela-S3	cervix:	n/a	n/a
34	CREB1	chr3:158449572-158450128	H1-hESC	embryonic stem cell:	n/a	n/a
35	SMARCB1	chr3:158449378-158450980	Hela-S3	cervix:	n/a	n/a
36	GABPA	chr3:158449732-158450145	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr3:158449726-158450051	SK-N-SH	brain:	n/a	n/a
38	TCF12	chr3:158449549-158450832	A549	lung:	n/a	chr3:158449859-158449866 chr3:158449637-158449644
39	CTBP2	chr3:158449569-158450925	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr3:158449500-158450763	A549	lung:	n/a	chr3:158449551-158449560
41	ZKSCAN1	chr3:158449702-158450170	Hela-S3	cervix:	n/a	n/a
42	MAX	chr3:158449632-158450093	SK-N-SH	brain:	n/a	n/a
43	ELK4	chr3:158449743-158450268	Hela-S3	cervix:	n/a	chr3:158449984-158449995
44	POLR2A	chr3:158449748-158450265	A549	lung:	n/a	n/a
45	GATA1	chr3:158449763-158451117	PBDE	blood:	n/a	n/a
46	MYC	chr3:158449765-158450017	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr3:158449639-158450511	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr3:158449643-158450236	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr3:158449618-158450683	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr3:158449667-158450584	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:158449734-158449784	AG09309	skin:	n/a
2	chr3:158449734-158449784	ovcar-3	ovarian:	n/a
3	chr3:158449734-158449784	PrEC	prostate:	n/a
4	chr3:158449734-158449784	IMR90	lung:	fetal
5	chr3:158449734-158449784	HCT-116	colon:	n/a
6	chr3:158449734-158449784	T-47D	breast:	n/a
7	chr3:158449734-158449784	HUVEC	blood vessel:	n/a
8	chr3:158449734-158449784	NB4	blood:	n/a
9	chr3:158449734-158449784	SK-N-SH	brain:	n/a
10	chr3:158449734-158449784	GM19239	blood:	n/a
11	chr3:158449734-158449784	AG04450	lung:	fetal
12	chr3:158449734-158449784	NHBE	bronchial:	n/a
13	chr3:158449734-158449784	MCF-7	breast:	n/a
14	chr3:158449734-158449784	HRE	kidney:	n/a
15	chr3:158449734-158449784	HIPEpiC	eye:	n/a
16	chr3:158449734-158449784	HCPEpiC	choroid plexus:	n/a
17	chr3:158449734-158449784	CMK	blood:	n/a
18	chr3:158449734-158449784	BJ	skin:	n/a
19	chr3:158449734-158449784	HEK293	kidney:	embryo
20	chr3:158449734-158449784	HNPCEpiC	eye:	n/a
21	chr3:158449734-158449784	RPTEC	kidney:	n/a
22	chr3:158449734-158449784	NHDF-neo	bronchial:	n/a
23	chr3:158449734-158449784	SK-N-SH_RA	brain:	n/a
24	chr3:158449734-158449784	LNCaP	prostate:	n/a
25	chr3:158449734-158449784	AG09319	gingival:	n/a
26	chr3:158449734-158449784	AoSMC	blood vessel:	n/a
27	chr3:158449734-158449784	GM12891	blood:	n/a
28	chr3:158449734-158449784	PFSK-1	brain:	n/a
29	chr3:158449734-158449784	K562	blood:	n/a
30	chr3:158449734-158449784	BE2_C	brain:	n/a
31	chr3:158449734-158449784	A549	lung:	n/a
32	chr3:158449734-158449784	ECC-1	luminal epithelium:	n/a
33	chr3:158449734-158449784	HCF	heart:	n/a
34	chr3:158449734-158449784	AG04449	skin:	fetal
35	chr3:158449734-158449784	SK-N-MC	brain:	n/a
36	chr3:158449734-158449784	GM06990	blood:	n/a
37	chr3:158449734-158449784	SKMC	muscle:	n/a
38	chr3:158449734-158449784	NH-A	brain:	n/a
39	chr3:158449734-158449784	HepG2	liver:	n/a
40	chr3:158449734-158449784	HRCEpiC	kidney:	n/a
41	chr3:158449734-158449784	HCM	heart:	n/a
42	chr3:158449734-158449784	PANC-1	pancreas:	n/a
43	chr3:158449734-158449784	HPAEpiC	pulmonary alveolar:	n/a
44	chr3:158449734-158449784	MCF10A-Er-Src	breast:	n/a
45	chr3:158449734-158449784	HMEC	breast:	n/a
46	chr3:158449734-158449784	SAEC	small airway:	n/a
47	chr3:158449734-158449784	HRPEpiC	eye:	n/a
48	chr3:158449734-158449784	H1-hESC	embryonic stem cell:	embryo
49	chr3:158449734-158449784	HEEpiC	esophagus:	n/a
50	chr3:158449734-158449784	GM12892	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64889401..64890183-chr3:158449447..158450182,2	Hela-S3	cervix:

Variant related genes	Relation type
MFSD1	TF binding region
ENSG00000240207	TF binding region
MFSD1	CpG island
ENSG00000240207	CpG island
ENSG00000149792	Chromatin interaction
ENSG00000149806	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs4264773	0.86[ASN][1000 genomes]
rs55835802	0.86[ASN][1000 genomes]
rs58152433	1.00[ASN][1000 genomes]
rs59217052	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59313096	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59918529	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59957986	1.00[ASN][1000 genomes]
rs61080878	0.86[ASN][1000 genomes]
rs61387735	1.00[ASN][1000 genomes]
rs61558956	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61696028	1.00[ASN][1000 genomes]
rs67301795	0.86[ASN][1000 genomes]
rs67305172	0.86[ASN][1000 genomes]
rs67446837	0.86[ASN][1000 genomes]
rs6775607	0.86[ASN][1000 genomes]
rs6788069	1.00[ASN][1000 genomes]
rs73015644	1.00[ASN][1000 genomes]
rs73015649	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73015651	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015652	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015654	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015655	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015657	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015665	1.00[ASN][1000 genomes]
rs73015669	1.00[ASN][1000 genomes]
rs73017536	1.00[ASN][1000 genomes]
rs73017539	1.00[ASN][1000 genomes]
rs73017540	1.00[ASN][1000 genomes]
rs73017541	1.00[ASN][1000 genomes]
rs73158333	0.86[ASN][1000 genomes]
rs73158334	0.86[ASN][1000 genomes]
rs7609656	0.85[EUR][1000 genomes]
rs7617304	0.86[ASN][1000 genomes]
rs7621322	0.91[EUR][1000 genomes]
rs7624161	1.00[ASN][1000 genomes]
rs7636023	1.00[ASN][1000 genomes]
rs7646881	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7646987	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv530059	chr3:158332590-159147549	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1014255	chr3:158358860-158768542	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv532665	chr3:158370013-158754245	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv948755	chr3:158388780-158672287	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv877692	chr3:158430706-158828643	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1001450	chr3:158440011-158768399	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv536777	chr3:158440011-158768399	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158448800-158449800	Flanking Active TSS	Hela-S3	cervix
2	chr3:158449000-158449800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr3:158449000-158449800	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr3:158449000-158449800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
5	chr3:158449000-158449800	Flanking Active TSS	Colon Smooth Muscle	Colon
6	chr3:158449000-158449800	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr3:158449000-158449800	Flanking Active TSS	Fetal Intestine Large	intestine
8	chr3:158449000-158449800	Flanking Active TSS	Fetal Lung	lung
9	chr3:158449000-158450000	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr3:158449000-158450200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr3:158449000-158450600	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr3:158449000-158450800	Flanking Active TSS	NH-A	brain
13	chr3:158449000-158451000	Active TSS	Fetal Kidney	kidney
14	chr3:158449200-158449800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
15	chr3:158449200-158449800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
16	chr3:158449200-158449800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
17	chr3:158449200-158449800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:158449200-158449800	Flanking Active TSS	Brain Cingulate Gyrus	brain
19	chr3:158449200-158449800	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr3:158449200-158449800	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr3:158449200-158449800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:158449200-158449800	Flanking Active TSS	Lung	lung
23	chr3:158449200-158449800	Flanking Active TSS	Ovary	ovary
24	chr3:158449200-158449800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr3:158449200-158449800	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr3:158449200-158449800	Flanking Active TSS	A549	lung
27	chr3:158449200-158449800	Flanking Active TSS	GM12878-XiMat	blood
28	chr3:158449200-158449800	Flanking Active TSS	NHLF	lung
29	chr3:158449200-158450000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:158449200-158450000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:158449200-158450000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr3:158449200-158450000	Flanking Active TSS	Osteobl	bone
33	chr3:158449200-158450800	Active TSS	Brain Anterior Caudate	brain
34	chr3:158449200-158450800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr3:158449200-158451000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr3:158449200-158451000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr3:158449400-158449800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:158449400-158449800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
39	chr3:158449400-158449800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr3:158449400-158449800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:158449400-158449800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:158449400-158449800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr3:158449400-158449800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
44	chr3:158449400-158449800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr3:158449400-158449800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:158449400-158449800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:158449400-158449800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:158449400-158449800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:158449400-158449800	Flanking Active TSS	Liver	Liver
50	chr3:158449400-158449800	Flanking Active TSS	Brain Angular Gyrus	brain

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