Variant report

Variant	rs7605114
Chromosome Location	chr2:99099545-99099546
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99097709..99100522-chr2:99102506..99104447,2	K562	blood:
2	chr2:99091514..99094203-chr2:99098934..99100639,2	MCF-7	breast:
3	chr2:99098848..99102252-chr2:99105499..99109445,4	MCF-7	breast:
4	chr2:99097127..99101392-chr2:99116860..99119795,3	MCF-7	breast:
5	chr2:99061518..99063442-chr2:99098258..99101170,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11885661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11890366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11891148	1.00[EUR][1000 genomes]
rs11901761	1.00[EUR][1000 genomes]
rs13395005	1.00[EUR][1000 genomes]
rs17020532	1.00[EUR][1000 genomes]
rs17030716	1.00[EUR][1000 genomes]
rs17033137	1.00[EUR][1000 genomes]
rs17034163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1847551	1.00[EUR][1000 genomes]
rs2271041	1.00[EUR][1000 genomes]
rs2871214	1.00[EUR][1000 genomes]
rs35028575	1.00[EUR][1000 genomes]
rs6710669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6716095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6727604	1.00[EUR][1000 genomes]
rs6730113	1.00[EUR][1000 genomes]
rs6730953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6739018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6749575	1.00[EUR][1000 genomes]
rs6749743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6754711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6756034	1.00[EUR][1000 genomes]
rs6756693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7561785	1.00[EUR][1000 genomes]
rs7570509	1.00[EUR][1000 genomes]
rs7585045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007244	chr2:99063753-99136472	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99072600-99119600	Weak transcription	Aorta	Aorta
2	chr2:99089000-99100000	Weak transcription	HepG2	liver
3	chr2:99090600-99099600	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr2:99090600-99107200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:99090800-99099600	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr2:99090800-99099800	Enhancers	Duodenum Mucosa	Duodenum
7	chr2:99090800-99108000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:99091800-99099800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:99092000-99101200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:99092800-99101800	Enhancers	Left Ventricle	heart
11	chr2:99092800-99103400	Enhancers	Lung	lung
12	chr2:99093600-99101000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:99093800-99099600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr2:99094000-99107000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:99094200-99101600	Enhancers	Placenta	Placenta
16	chr2:99094800-99100800	Enhancers	HMEC	breast
17	chr2:99094800-99103400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:99095000-99100200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:99095000-99100600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:99095000-99101000	Enhancers	Fetal Lung	lung
21	chr2:99095000-99107200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr2:99095200-99101200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:99095400-99100200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr2:99095400-99100800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr2:99095600-99099800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:99096000-99106600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:99096200-99100000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:99096200-99101000	Weak transcription	Fetal Kidney	kidney
29	chr2:99096400-99100600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr2:99096400-99101600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr2:99096600-99099800	Enhancers	Primary T cells from cord blood	blood
32	chr2:99096600-99100200	Weak transcription	Fetal Intestine Small	intestine
33	chr2:99096600-99100600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:99096600-99100600	Weak transcription	Liver	Liver
35	chr2:99096600-99100600	Weak transcription	Fetal Intestine Large	intestine
36	chr2:99096600-99100600	Weak transcription	A549	lung
37	chr2:99096600-99101200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:99096800-99101200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:99096800-99101800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:99096800-99103000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:99096800-99113600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:99097000-99099600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:99097000-99099800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr2:99097000-99100000	Weak transcription	Stomach Mucosa	stomach
45	chr2:99097000-99103000	Weak transcription	Osteobl	bone
46	chr2:99097200-99099800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:99097200-99100000	Weak transcription	Small Intestine	intestine
48	chr2:99097200-99100800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr2:99097200-99101800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:99097200-99106800	Enhancers	Primary T helper cells PMA-I stimulated	--

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