Variant report

Variant	rs10088879
Chromosome Location	chr8:95655403-95655404
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	CTCF	chr8:95654343-95655524	A549	lung:	n/a	chr8:95654690-95654703
2	CEBPB	chr8:95655049-95655411	Hela-S3	cervix:	n/a	chr8:95655207-95655224
3	SIN3AK20	chr8:95650805-95655762	MCF-7	breast:	n/a	n/a
4	POLR2A	chr8:95650920-95655655	HCT-116	colon:	n/a	n/a
5	POLR2A	chr8:95655342-95655567	MCF-7	breast:	n/a	n/a
6	POLR2A	chr8:95650914-95655709	HCT-116	colon:	n/a	n/a
7	POLR2A	chr8:95651084-95655711	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr8:95650828-95655587	MCF-7	breast:	n/a	chr8:95654385-95654394 chr8:95653170-95653180 chr8:95653168-95653183 chr8:95653172-95653181 chr8:95652686-95652696 chr8:95655233-95655242 chr8:95653170-95653179
9	SIN3AK20	chr8:95650826-95655784	MCF-7	breast:	n/a	n/a
10	CEBPB	chr8:95654498-95655464	MCF-7	breast:	n/a	chr8:95655207-95655224

No.	Distal block	Cell Line	Cell type
1	chr8:95650400..95656999-chr8:95729644..95735467,19	MCF-7	breast:
2	chr8:95655009..95657075-chr8:95717339..95719274,2	MCF-7	breast:
3	chr8:95650894..95656484-chr8:95728446..95733482,20	MCF-7	breast:
4	chr8:95649858..95656937-chr8:95675336..95684799,15	MCF-7	breast:
5	chr8:95604766..95607186-chr8:95653718..95656477,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261437	TF binding region
ESRP1	TF binding region
ENSG00000254283	Chromatin interaction
ENSG00000156162	Chromatin interaction
ENSG00000104413	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10094449	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11993311	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28369125	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv429929	chr8:95564533-95676894	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95651000-95655600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:95651400-95655600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
3	chr8:95652200-95655600	Bivalent/Poised TSS	Small Intestine	intestine
4	chr8:95652600-95655600	Bivalent/Poised TSS	Stomach Mucosa	stomach
5	chr8:95653600-95655600	Bivalent/Poised TSS	Fetal Kidney	kidney
6	chr8:95653600-95655600	Bivalent/Poised TSS	Fetal Lung	lung
7	chr8:95653800-95655600	Active TSS	Esophagus	oesophagus
8	chr8:95654200-95655600	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
9	chr8:95654600-95655600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
10	chr8:95654600-95656800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:95654800-95655600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
12	chr8:95654800-95656000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
13	chr8:95654800-95656400	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
14	chr8:95654800-95656400	Transcr. at gene 5' and 3'	NHEK	skin
15	chr8:95655000-95655600	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:95655000-95655600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
17	chr8:95655000-95655600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
18	chr8:95655000-95655600	Bivalent Enhancer	Colon Smooth Muscle	Colon
19	chr8:95655000-95655600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
20	chr8:95655000-95655600	Active TSS	Lung	lung
21	chr8:95655000-95656200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:95655000-95656600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
23	chr8:95655200-95655600	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr8:95655200-95655600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:95655200-95655600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:95655200-95655600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
27	chr8:95655200-95655600	Active TSS	Spleen	Spleen
28	chr8:95655200-95655800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
29	chr8:95655200-95655800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
30	chr8:95655200-95655800	Bivalent Enhancer	Brain Hippocampus Middle	brain
31	chr8:95655200-95655800	Bivalent Enhancer	Placenta	Placenta
32	chr8:95655200-95655800	Flanking Active TSS	HMEC	breast
33	chr8:95655200-95656600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
34	chr8:95655400-95655600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:95655400-95655600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:95655400-95655600	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
37	chr8:95655400-95655600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
38	chr8:95655400-95655600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:95655400-95655600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
40	chr8:95655400-95655600	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:95655400-95655600	Flanking Active TSS	Gastric	stomach
42	chr8:95655400-95655600	Flanking Active TSS	Pancreas	Pancrea
43	chr8:95655400-95655800	Active TSS	Colonic Mucosa	Colon
44	chr8:95655400-95655800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
45	chr8:95655400-95655800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
46	chr8:95655400-95655800	Bivalent/Poised TSS	Fetal Stomach	stomach
47	chr8:95655400-95656000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr8:95655400-95658800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr8:95655400-95669200	Weak transcription	Placenta Amnion	Placenta Amnion

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