Variant report

Variant	rs2806697
Chromosome Location	chr9:103052798-103052799
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:103041102..103043350-chr9:103052367..103054020,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1338121	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1338126	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1572607	0.80[EUR][1000 genomes]
rs2065997	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2491096	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2491098	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2787364	0.80[EUR][1000 genomes]
rs2787371	0.81[ASN][1000 genomes]
rs2787374	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2787379	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2787382	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2787384	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2787386	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2787393	0.82[EUR][1000 genomes]
rs2787396	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2806681	0.82[EUR][1000 genomes]
rs2806684	0.82[EUR][1000 genomes]
rs2806685	0.82[EUR][1000 genomes]
rs2806687	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2806688	0.82[EUR][1000 genomes]
rs2806689	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2806690	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2806691	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2806699	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2806700	0.87[ASN][1000 genomes]
rs2806701	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2806703	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7865678	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9408998	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[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	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	esv1835721	chr9:102991314-103096666	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv972794	chr9:103048878-103055461	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102973000-103053800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr9:102979400-103054600	Weak transcription	NHEK	skin
3	chr9:102987400-103054600	Weak transcription	Gastric	stomach
4	chr9:102997800-103054400	Weak transcription	Colonic Mucosa	Colon
5	chr9:103029000-103053600	Weak transcription	Hela-S3	cervix
6	chr9:103029200-103054600	Weak transcription	Brain Angular Gyrus	brain
7	chr9:103040400-103053000	Weak transcription	NHLF	lung
8	chr9:103040400-103058600	Weak transcription	NH-A	brain
9	chr9:103044000-103067800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:103044200-103071200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:103044600-103102400	Weak transcription	Stomach Mucosa	stomach
12	chr9:103044800-103067800	Strong transcription	Stomach Smooth Muscle	stomach
13	chr9:103045200-103053000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:103046000-103075400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr9:103046200-103060000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr9:103046200-103072800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr9:103046400-103104000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr9:103046600-103092400	Strong transcription	Fetal Thymus	thymus
19	chr9:103046800-103055400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr9:103047000-103052800	Weak transcription	Esophagus	oesophagus
21	chr9:103047000-103053400	Weak transcription	Spleen	Spleen
22	chr9:103047000-103057000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr9:103047000-103061400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr9:103047200-103063000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr9:103047400-103053000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr9:103047400-103070800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr9:103047600-103057400	Strong transcription	Fetal Intestine Large	intestine
28	chr9:103047800-103058400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr9:103048000-103054600	Weak transcription	HSMMtube	muscle
30	chr9:103048000-103056800	Weak transcription	NHDF-Ad	bronchial
31	chr9:103048000-103068600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr9:103048000-103078000	Strong transcription	Primary T cells from cord blood	blood
33	chr9:103048200-103053000	Weak transcription	HMEC	breast
34	chr9:103048200-103054200	Weak transcription	Colon Smooth Muscle	Colon
35	chr9:103048200-103054400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr9:103048200-103054400	Weak transcription	Brain Substantia Nigra	brain
37	chr9:103048200-103054600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr9:103048200-103055400	Weak transcription	Fetal Brain Male	brain
39	chr9:103048200-103058600	Weak transcription	K562	blood
40	chr9:103048200-103060000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr9:103048200-103060600	Weak transcription	HUVEC	blood vessel
42	chr9:103048200-103061000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr9:103048200-103061200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr9:103048200-103062600	Weak transcription	Small Intestine	intestine
45	chr9:103048200-103064600	Strong transcription	Adipose Nuclei	Adipose
46	chr9:103048200-103069600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr9:103048400-103054200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr9:103048400-103057200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr9:103048400-103068200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr9:103048400-103083000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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