Variant report

Variant	rs6694357
Chromosome Location	chr1:151035628-151035629
allele	A/C
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	GTF2F1	chr1:151035307-151035629	Hela-S3	cervix:	n/a	n/a
2	UBTF	chr1:151035501-151035674	K562	blood:	n/a	n/a
3	POLR2A	chr1:151035113-151035700	SK-N-SH	brain:	n/a	n/a
4	STAT3	chr1:151035347-151035641	MCF10A-Er-Src	breast:	n/a	n/a
5	JUND	chr1:151035279-151035632	HepG2	liver:	n/a	n/a
6	BHLHE40	chr1:151035236-151035643	K562	blood:	n/a	n/a
7	YY1	chr1:151035083-151035692	SK-N-SH	brain:	n/a	n/a
8	JUN	chr1:151035271-151035628	K562	blood:	n/a	chr1:151035444-151035457
9	IRF1	chr1:151035363-151035710	K562	blood:	n/a	chr1:151035678-151035689 chr1:151035534-151035543
10	GATA3	chr1:151035243-151035732	SH-SY5Y	brain:	n/a	chr1:151035415-151035428
11	MAFK	chr1:151035354-151035741	IMR90	lung:	n/a	n/a
12	JUND	chr1:151035271-151035672	Hela-S3	cervix:	n/a	n/a
13	JUN	chr1:151034936-151035988	K562	blood:	n/a	chr1:151035444-151035457
14	NR2F2	chr1:151035219-151035631	K562	blood:	n/a	n/a
15	MYC	chr1:151035309-151035679	K562	blood:	n/a	n/a
16	MAZ	chr1:151035299-151035648	K562	blood:	n/a	n/a
17	FOS	chr1:151035306-151035666	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr1:151035351-151035696	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr1:151035317-151035641	MCF10A-Er-Src	breast:	n/a	n/a
20	MAX	chr1:151035279-151035712	SK-N-SH	brain:	n/a	n/a
21	ATF3	chr1:151035178-151035695	K562	blood:	n/a	n/a
22	JUN	chr1:151035273-151035673	Hela-S3	cervix:	n/a	chr1:151035444-151035457
23	GATA2	chr1:151035241-151035631	SH-SY5Y	brain:	n/a	chr1:151035415-151035428
24	FOS	chr1:151035310-151035680	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr1:151035344-151035644	MCF10A-Er-Src	breast:	n/a	n/a
26	JUN	chr1:151035253-151035681	K562	blood:	n/a	chr1:151035444-151035457
27	MAX	chr1:151035282-151035651	K562	blood:	n/a	n/a
28	EP300	chr1:151035284-151035662	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr1:151035280-151035658	K562	blood:	n/a	n/a
30	TEAD4	chr1:151035115-151035800	K562	blood:	n/a	n/a
31	JUN	chr1:151035247-151035723	K562	blood:	n/a	chr1:151035444-151035457
32	JUND	chr1:151035039-151035898	SK-N-SH	brain:	n/a	n/a
33	JUND	chr1:151035234-151035681	K562	blood:	n/a	n/a
34	CEBPB	chr1:151035286-151035680	IMR90	lung:	n/a	n/a
35	ATF1	chr1:151035239-151035641	K562	blood:	n/a	n/a
36	CEBPB	chr1:151035238-151035677	K562	blood:	n/a	n/a
37	STAT3	chr1:151035346-151035643	MCF10A-Er-Src	breast:	n/a	n/a
38	KAP1	chr1:151035211-151035718	U2OS	brain:	n/a	n/a
39	TBL1XR1	chr1:151035198-151035786	K562	blood:	n/a	n/a
40	NR2F2	chr1:151035189-151035770	K562	blood:	n/a	n/a
41	MYC	chr1:151035296-151035654	MCF10A-Er-Src	breast:	n/a	n/a
42	EP300	chr1:151035223-151035697	K562	blood:	n/a	n/a
43	JUN	chr1:151035259-151035654	K562	blood:	n/a	chr1:151035444-151035457
44	RCOR1	chr1:151035234-151035692	K562	blood:	n/a	n/a
45	MAX	chr1:151035284-151035643	K562	blood:	n/a	n/a
46	CEBPB	chr1:151035322-151035665	Hela-S3	cervix:	n/a	n/a
47	GATA3	chr1:151035030-151035813	SK-N-SH	brain:	n/a	chr1:151035415-151035428
48	GATA3	chr1:151035122-151035856	SK-N-SH	brain:	n/a	chr1:151035415-151035428
49	MAFK	chr1:151035290-151035685	K562	blood:	n/a	n/a
50	FOSL2	chr1:151035154-151035786	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150941235..150942777-chr1:151033520..151036344,2	K562	blood:
2	chr1:150976723..150987587-chr1:151024685..151036322,24	MCF-7	breast:
3	chr1:151034097..151036685-chr20:45986006..45988926,2	MCF-7	breast:
4	chr1:150996357..150999455-chr1:151032530..151036839,3	K562	blood:

Variant related genes	Relation type
CDC42SE1	TF binding region
ENSG00000143363	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000143409	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs34061869	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819215	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819222	0.87[AFR][1000 genomes]
rs72992099	0.86[AFR][1000 genomes]
rs72994015	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers 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	219 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151030800-151035800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:151031200-151035800	Active TSS	Brain Cingulate Gyrus	brain
3	chr1:151031400-151035800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:151033000-151042800	Weak transcription	Gastric	stomach
5	chr1:151033200-151042200	Weak transcription	Esophagus	oesophagus
6	chr1:151033200-151042200	Weak transcription	Pancreas	Pancrea
7	chr1:151033200-151042600	Weak transcription	Aorta	Aorta
8	chr1:151033600-151041800	Weak transcription	Primary B cells from cord blood	blood
9	chr1:151033600-151042200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:151033800-151036400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr1:151033800-151036600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:151033800-151038400	Weak transcription	Primary T cells from cord blood	blood
13	chr1:151033800-151042600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:151033800-151042600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:151033800-151042600	Weak transcription	Right Atrium	heart
16	chr1:151034000-151035800	Enhancers	Fetal Heart	heart
17	chr1:151034000-151036600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:151034000-151036600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:151034000-151036800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:151034000-151038200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:151034000-151038400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:151034000-151041800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:151034000-151041800	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:151034000-151041800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:151034000-151042000	Weak transcription	Spleen	Spleen
26	chr1:151034000-151042200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:151034000-151042400	Weak transcription	Fetal Intestine Small	intestine
28	chr1:151034200-151036000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:151034200-151036200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:151034200-151038400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:151034200-151038400	Weak transcription	Fetal Stomach	stomach
32	chr1:151034200-151038600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:151034200-151041600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:151034200-151042400	Weak transcription	Fetal Intestine Large	intestine
35	chr1:151034400-151038600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:151034400-151041400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:151034400-151042200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:151034600-151036800	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:151034600-151037000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:151034600-151038600	Weak transcription	Thymus	Thymus
41	chr1:151034600-151039600	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:151034600-151041800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:151034600-151042600	Weak transcription	Fetal Kidney	kidney
44	chr1:151034800-151036800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:151034800-151037000	Weak transcription	Liver	Liver
46	chr1:151035200-151035800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:151035200-151035800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:151035200-151035800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr1:151035200-151035800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:151035200-151035800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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