Variant report

Variant	rs2068096
Chromosome Location	chr8:61765560-61765561
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	chr8:61765557-61765613	MCF-7	breast:	n/a	n/a
2	POLR2A	chr8:61765445-61765765	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr8:61765533-61765620	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61735291..61738115-chr8:61764523..61766656,2	MCF-7	breast:

Variant related genes	Relation type
CHD7	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10090769	1.00[CHB][hapmap]
rs11986627	1.00[JPT][hapmap]
rs13256570	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13257536	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926520	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35951521	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763592	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984890	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs7826289	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7826377	0.90[EUR][1000 genomes];0.89[ASN][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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv890946	chr8:61726879-61802076	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61718800-61781000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:61740400-61780200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:61741200-61770600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:61741800-61777600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:61741800-61780800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:61742200-61778800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:61743400-61777400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:61747600-61767200	Strong transcription	GM12878-XiMat	blood
9	chr8:61748400-61771800	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:61748600-61767200	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr8:61748600-61770400	Strong transcription	Placenta	Placenta
12	chr8:61749200-61766800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:61749400-61770200	Strong transcription	HepG2	liver
14	chr8:61749400-61777600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:61749600-61768000	Weak transcription	Ovary	ovary
16	chr8:61750800-61776200	Strong transcription	Liver	Liver
17	chr8:61751000-61777800	Weak transcription	Aorta	Aorta
18	chr8:61751800-61780400	Strong transcription	Fetal Intestine Large	intestine
19	chr8:61752600-61780400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:61752800-61773800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:61752800-61779000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:61753000-61770400	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr8:61753000-61779200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:61753200-61779400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:61753200-61782000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:61753400-61772400	Strong transcription	Dnd41	blood
27	chr8:61753600-61770400	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr8:61753600-61778600	Strong transcription	Duodenum Mucosa	Duodenum
29	chr8:61753800-61766200	Strong transcription	Fetal Intestine Small	intestine
30	chr8:61753800-61766800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:61753800-61767200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:61754000-61767000	Strong transcription	HMEC	breast
33	chr8:61754000-61769800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:61754400-61769600	Strong transcription	K562	blood
35	chr8:61756200-61769200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr8:61757200-61768600	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:61759400-61769600	Genic enhancers	Fetal Muscle Leg	muscle
38	chr8:61759600-61776400	Strong transcription	Primary T cells from cord blood	blood
39	chr8:61760200-61767400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr8:61760400-61766200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:61760400-61780000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr8:61760400-61780400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:61760600-61767200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:61760600-61769400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr8:61760600-61770400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:61760800-61766800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr8:61761000-61766200	Strong transcription	Pancreas	Pancrea
48	chr8:61761000-61766200	Strong transcription	Spleen	Spleen
49	chr8:61761000-61777800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:61761000-61778600	Strong transcription	Sigmoid Colon	Sigmoid Colon

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