Variant report

Variant	rs10214495
Chromosome Location	chr6:26223608-26223609
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:26223438-26226663	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr6:26222893-26228787	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr6:26223484-26226563	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr6:26223387-26226586	H1-neurons	neurons:	n/a	n/a
5	ATF2	chr6:26223460-26226559	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr6:26223429-26227547	MCF-7	breast:	n/a	n/a
7	REST	chr6:26222749-26226655	H1-neurons	neurons:	n/a	n/a
8	RUNX3	chr6:26223394-26224767	GM12878	blood:	n/a	n/a
9	TCF12	chr6:26223419-26224783	SK-N-SH	brain:	n/a	n/a
10	TAF1	chr6:26223585-26225089	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr6:26223355-26224859	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr6:26223434-26224779	H1-hESC	embryonic stem cell:	n/a	n/a
13	NFIC	chr6:26223377-26225325	GM12878	blood:	n/a	n/a
14	ATF2	chr6:26223579-26226631	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr6:26223521-26225248	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr6:26223173-26225931	K562	blood:	n/a	n/a
17	POLR2A	chr6:26223487-26223629	H1-hESC	embryonic stem cell:	n/a	n/a
18	TAF7	chr6:26223535-26227684	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26222884..26225206-chr6:27806186..27807804,2	MCF-7	breast:
2	chr15:76196195..76197776-chr6:26222407..26224118,2	MCF-7	breast:
3	chr1:115053214..115055061-chr6:26223399..26225353,2	MCF-7	breast:
4	chr6:26222936..26225341-chr6:27112553..27114622,2	MCF-7	breast:
5	chr6:26030891..26034608-chr6:26223354..26228378,6	MCF-7	breast:
6	chr6:26055362..26057199-chr6:26221388..26224194,2	MCF-7	breast:
7	chr6:26222789..26225595-chr6:27100763..27103064,2	MCF-7	breast:

No data

Variant related genes	Relation type
HIST1H3E	TF binding region
ENSG00000137259	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000197323	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000167196	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000233822	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10046318	0.83[AMR][1000 genomes]
rs10046345	1.00[YRI][hapmap]
rs9467693	1.00[YRI][hapmap]
rs9467694	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
4	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
5	nsv1025237	chr6:25874326-26280867	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
6	nsv538163	chr6:25874326-26280867	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
7	nsv428137	chr6:25987413-26351920	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1181 gene(s)	inside rSNPs	diseases
8	nsv916992	chr6:25991630-26280921	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1159 gene(s)	inside rSNPs	diseases
9	nsv1028232	chr6:26005449-26319756	Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1171 gene(s)	inside rSNPs	diseases
10	nsv870314	chr6:26008435-26280807	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1151 gene(s)	inside rSNPs	diseases
11	nsv1023457	chr6:26014014-26305407	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1170 gene(s)	inside rSNPs	diseases
12	nsv1025493	chr6:26026870-26223838	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1001 gene(s)	inside rSNPs	diseases
13	nsv1023979	chr6:26026870-26287399	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1113 gene(s)	inside rSNPs	diseases
14	nsv1015782	chr6:26026870-26323895	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1114 gene(s)	inside rSNPs	diseases
15	nsv1018665	chr6:26026870-26352046	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1116 gene(s)	inside rSNPs	diseases
16	nsv482348	chr6:26082709-26261136	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	799 gene(s)	inside rSNPs	diseases
17	nsv883490	chr6:26172219-26231608	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	316 gene(s)	inside rSNPs	diseases
18	nsv1021294	chr6:26190316-26246784	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	309 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26217600-26224000	Weak transcription	Pancreas	Pancrea
2	chr6:26217800-26225400	Weak transcription	Spleen	Spleen
3	chr6:26218400-26223800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:26218600-26223800	Weak transcription	Placenta	Placenta
5	chr6:26219400-26223800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:26219600-26223800	Weak transcription	Hela-S3	cervix
7	chr6:26221000-26224000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:26222400-26223800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:26222800-26223800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:26222800-26224000	Flanking Active TSS	Dnd41	blood
11	chr6:26222800-26224200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:26223000-26223800	Flanking Active TSS	Fetal Brain Female	brain
13	chr6:26223000-26223800	Flanking Active TSS	Fetal Thymus	thymus
14	chr6:26223000-26224000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr6:26223000-26224000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:26223000-26225400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:26223200-26224000	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr6:26223200-26224000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:26223200-26224000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr6:26223200-26224200	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr6:26223200-26225200	Active TSS	Thymus	Thymus
22	chr6:26223200-26225400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:26223200-26225400	Active TSS	Fetal Muscle Trunk	muscle
24	chr6:26223200-26225800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:26223200-26225800	Active TSS	Fetal Brain Male	brain
26	chr6:26223200-26226600	Active TSS	NHLF	lung
27	chr6:26223200-26227000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:26223200-26227400	Active TSS	H1 Cell Line	embryonic stem cell
29	chr6:26223400-26223800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr6:26223400-26223800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr6:26223400-26224000	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr6:26223400-26224000	Flanking Active TSS	HMEC	breast
33	chr6:26223400-26224000	Flanking Active TSS	NHEK	skin
34	chr6:26223400-26224200	Flanking Active TSS	HUVEC	blood vessel
35	chr6:26223400-26224600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:26223400-26224600	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr6:26223400-26225200	Active TSS	A549	lung
38	chr6:26223400-26225200	Active TSS	GM12878-XiMat	blood
39	chr6:26223400-26225400	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr6:26223400-26225400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:26223400-26225400	Active TSS	Primary T cells fromperipheralblood	blood
42	chr6:26223400-26225400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:26223400-26225400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:26223400-26225400	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr6:26223400-26225600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:26223400-26225800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:26223400-26225800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:26223400-26226000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:26223400-26226000	Active TSS	Brain Germinal Matrix	brain
50	chr6:26223400-26226200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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