Variant report

Variant	rs4707213
Chromosome Location	chr6:86261386-86261387
allele	C/T
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	NFYB	chr6:86261001-86261470	K562	blood:	n/a	chr6:86261183-86261198 chr6:86261207-86261222 chr6:86261231-86261246
2	NFYB	chr6:86261022-86261422	GM12878	blood:	n/a	chr6:86261183-86261198 chr6:86261207-86261222 chr6:86261231-86261246
3	SP1	chr6:86260944-86261454	H1-hESC	embryonic stem cell:	n/a	n/a
4	SP1	chr6:86260959-86261420	K562	blood:	n/a	n/a
5	NFYA	chr6:86261025-86261431	K562	blood:	n/a	chr6:86261186-86261204 chr6:86261234-86261252 chr6:86261210-86261228

No.	Distal block	Cell Line	Cell type
1	chr1:121483913..121485978-chr6:86260101..86262043,2	MCF-7	breast:
2	chr6:86256251..86258999-chr6:86261062..86262660,2	K562	blood:
3	chr6:86258616..86262862-chr6:86386972..86389770,3	K562	blood:
4	chr6:86260582..86262333-chr6:86283688..86285782,2	K562	blood:

Variant related genes	Relation type
SNX14	TF binding region
ENSG00000203875	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs13192070	0.82[ASN][1000 genomes]
rs13194512	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13198956	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13202606	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs13208740	1.00[CEU][hapmap]
rs16876230	0.84[EUR][1000 genomes]
rs16876340	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16876385	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1793	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34239697	0.91[EUR][1000 genomes]
rs34898046	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34936540	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35121980	0.87[EUR][1000 genomes]
rs35367106	0.91[EUR][1000 genomes]
rs35694036	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35712823	0.87[EUR][1000 genomes]
rs35988746	0.83[EUR][1000 genomes]
rs36088473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3734442	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[EUR][1000 genomes]
rs3900740	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4707206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4707220	0.80[CHB][hapmap]
rs55648312	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55810446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67493405	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6906121	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6909402	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6909654	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6910641	0.85[EUR][1000 genomes]
rs6915519	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71570763	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71570764	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71570766	0.91[EUR][1000 genomes]
rs7738371	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7740830	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742792	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7766863	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7771577	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9450302	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	esv3326486	chr6:86020165-86292456	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv3435075	chr6:86052235-86271910	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv463937	chr6:86114766-86264374	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv604092	chr6:86114766-86264374	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv886333	chr6:86199243-86289415	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv463939	chr6:86205323-86279737	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv470839	chr6:86205323-86279737	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv604093	chr6:86205323-86279737	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv886334	chr6:86214507-86394403	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
12	esv1792638	chr6:86224053-86336300	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking 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	15 gene(s)	inside rSNPs	diseases
13	nsv516516	chr6:86234835-86278691	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86208800-86284600	Weak transcription	Small Intestine	intestine
2	chr6:86208800-86289200	Weak transcription	Pancreas	Pancrea
3	chr6:86218400-86266200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:86221800-86285800	Weak transcription	Fetal Brain Male	brain
5	chr6:86222600-86289400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:86223400-86262800	Weak transcription	Stomach Mucosa	stomach
7	chr6:86223400-86285000	Weak transcription	Brain Substantia Nigra	brain
8	chr6:86223800-86262600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:86224000-86279000	Weak transcription	NHLF	lung
10	chr6:86224200-86302600	Weak transcription	Colonic Mucosa	Colon
11	chr6:86230000-86263000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:86231200-86285000	Weak transcription	Hela-S3	cervix
13	chr6:86233400-86262200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr6:86233600-86262400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:86233800-86289200	Weak transcription	Spleen	Spleen
16	chr6:86236600-86279000	Weak transcription	HMEC	breast
17	chr6:86241400-86283600	Weak transcription	Fetal Kidney	kidney
18	chr6:86243200-86285200	Weak transcription	Psoas Muscle	Psoas
19	chr6:86243200-86286000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:86243400-86269600	Weak transcription	Brain Anterior Caudate	brain
21	chr6:86243400-86301400	Weak transcription	Thymus	Thymus
22	chr6:86243600-86285000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr6:86243600-86285800	Weak transcription	Fetal Brain Female	brain
24	chr6:86243600-86286200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:86243800-86284800	Weak transcription	Brain Angular Gyrus	brain
26	chr6:86244000-86262800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr6:86244000-86265400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr6:86244200-86279000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr6:86244200-86286000	Weak transcription	Right Ventricle	heart
30	chr6:86244200-86289200	Weak transcription	Gastric	stomach
31	chr6:86244400-86281000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:86246400-86279000	Weak transcription	NHEK	skin
33	chr6:86246600-86265000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr6:86246600-86270800	Weak transcription	HUVEC	blood vessel
35	chr6:86246600-86274200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:86247800-86262600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:86248200-86271200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr6:86250200-86284800	Weak transcription	Aorta	Aorta
39	chr6:86252800-86284400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr6:86252800-86289600	Weak transcription	Esophagus	oesophagus
41	chr6:86253400-86286000	Weak transcription	Brain Germinal Matrix	brain
42	chr6:86254800-86271400	Weak transcription	Colon Smooth Muscle	Colon
43	chr6:86254800-86287800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr6:86255200-86264600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr6:86256000-86262400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:86256000-86278800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:86257400-86266400	Weak transcription	Placenta	Placenta
48	chr6:86257600-86285200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:86257800-86262400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:86257800-86262800	Weak transcription	HSMM	muscle

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