Variant report

Variant	rs7585045
Chromosome Location	chr2:99116182-99116183
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99114971..99120077-chr2:99122258..99125912,6	K562	blood:

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[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]
rs7605114	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99072600-99119600	Weak transcription	Aorta	Aorta
2	chr2:99100400-99121600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:99101600-99121200	Weak transcription	Gastric	stomach
4	chr2:99101600-99131400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:99102200-99122200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:99103600-99118400	Weak transcription	HSMMtube	muscle
7	chr2:99104000-99118400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:99105200-99120400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:99106800-99119600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:99106800-99119800	Weak transcription	Pancreas	Pancrea
11	chr2:99108000-99120200	Weak transcription	Esophagus	oesophagus
12	chr2:99108200-99118400	Weak transcription	Brain Angular Gyrus	brain
13	chr2:99109600-99116800	Weak transcription	Lung	lung
14	chr2:99111000-99118800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:99111600-99118400	Weak transcription	Right Atrium	heart
16	chr2:99111600-99118400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:99111800-99118200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:99111800-99121200	Weak transcription	K562	blood
19	chr2:99112000-99118400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:99112200-99116800	Weak transcription	Psoas Muscle	Psoas
21	chr2:99112200-99130600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:99112400-99118600	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:99112800-99117200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:99112800-99118400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:99113400-99118800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:99113600-99117800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:99113600-99118600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:99113600-99123600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:99114000-99116400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:99114000-99116600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:99114000-99116600	Weak transcription	Thymus	Thymus
32	chr2:99114000-99117400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:99114000-99118000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:99114000-99119400	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:99114000-99119600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr2:99114000-99120000	Weak transcription	Dnd41	blood
37	chr2:99114000-99124200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:99114000-99137600	Weak transcription	Fetal Intestine Large	intestine
39	chr2:99114200-99118200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:99114200-99118600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:99114400-99116600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:99114400-99121200	Weak transcription	Fetal Intestine Small	intestine
43	chr2:99114400-99123400	Weak transcription	Brain Germinal Matrix	brain
44	chr2:99114400-99131200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:99114400-99154000	Weak transcription	HepG2	liver
46	chr2:99114600-99118600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:99114600-99120000	Weak transcription	Liver	Liver
48	chr2:99114800-99116200	Enhancers	HUVEC	blood vessel
49	chr2:99114800-99116600	Strong transcription	Fetal Thymus	thymus
50	chr2:99114800-99117000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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