Variant report

Variant	rs7557303
Chromosome Location	chr2:209166704-209166705
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	chr2:209165926..209168166-chr2:209169181..209171206,2	K562	blood:
2	chr2:209166666..209169529-chr2:209169706..209171903,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10173938	0.95[EUR][1000 genomes]
rs10174541	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176626	0.98[EUR][1000 genomes]
rs10177810	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10186350	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189031	0.95[EUR][1000 genomes]
rs10190458	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10194539	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198535	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202116	1.00[ASN][1000 genomes]
rs10497897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497898	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10932260	0.98[EUR][1000 genomes]
rs11554137	1.00[ASN][1000 genomes]
rs11685614	1.00[ASN][1000 genomes]
rs11885913	0.88[CEU][hapmap];0.83[AMR][1000 genomes]
rs11895188	0.88[CEU][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11898653	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11901959	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185709	0.88[CEU][hapmap];0.95[EUR][1000 genomes]
rs12475932	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12694104	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs13392540	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs13395304	0.93[EUR][1000 genomes]
rs13407268	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13407897	1.00[EUR][1000 genomes]
rs13412043	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1584200	0.98[EUR][1000 genomes]
rs17699838	0.83[AMR][1000 genomes]
rs17700235	0.88[CEU][hapmap]
rs1866046	0.88[CEU][hapmap];0.84[YRI][hapmap];0.88[AMR][1000 genomes]
rs1900239	0.98[EUR][1000 genomes]
rs2304545	0.84[EUR][1000 genomes]
rs2363465	0.95[EUR][1000 genomes]
rs2363466	0.95[EUR][1000 genomes]
rs28418905	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34218846	1.00[ASN][1000 genomes]
rs3928183	1.00[ASN][1000 genomes]
rs4673391	0.98[EUR][1000 genomes]
rs4673393	0.95[EUR][1000 genomes]
rs4673394	1.00[CEU][hapmap]
rs4675748	0.89[CEU][hapmap];0.98[EUR][1000 genomes]
rs4675751	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs59522113	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59684347	1.00[ASN][1000 genomes]
rs6435435	1.00[ASN][1000 genomes]
rs66826643	0.83[AMR][1000 genomes]
rs66887797	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67171462	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67202912	1.00[ASN][1000 genomes]
rs6724208	0.98[EUR][1000 genomes]
rs6736599	0.98[EUR][1000 genomes]
rs67581965	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67669827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67965883	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72976889	1.00[ASN][1000 genomes]
rs72989243	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73056463	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73070950	1.00[ASN][1000 genomes]
rs73070958	1.00[ASN][1000 genomes]
rs73070962	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7355562	0.88[EUR][1000 genomes]
rs7587752	0.98[EUR][1000 genomes]
rs7592472	0.84[EUR][1000 genomes]
rs9288392	0.98[EUR][1000 genomes]
rs9646838	1.00[ASN][1000 genomes]
rs999890	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs999891	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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	26 gene(s)	inside rSNPs	diseases
6	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	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	chr2:209136000-209171800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:209139400-209180000	Strong transcription	Fetal Thymus	thymus
3	chr2:209141200-209180000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:209141800-209169000	Weak transcription	Hela-S3	cervix
5	chr2:209147400-209225600	Weak transcription	Stomach Mucosa	stomach
6	chr2:209147800-209168200	Weak transcription	Gastric	stomach
7	chr2:209148600-209167600	Weak transcription	Esophagus	oesophagus
8	chr2:209148600-209169600	Weak transcription	Spleen	Spleen
9	chr2:209149600-209179800	Strong transcription	Dnd41	blood
10	chr2:209154000-209168400	Weak transcription	NHLF	lung
11	chr2:209155400-209168400	Weak transcription	HSMMtube	muscle
12	chr2:209155400-209169400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:209155600-209169600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:209155600-209170000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:209156000-209180000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:209156200-209168600	Weak transcription	HMEC	breast
17	chr2:209157200-209173600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:209159200-209182200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:209159800-209179400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:209160000-209188800	Weak transcription	Small Intestine	intestine
21	chr2:209162400-209171400	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:209162400-209171400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:209162400-209172000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:209162400-209172000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr2:209162400-209174600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr2:209162600-209171000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:209162600-209171200	Strong transcription	Liver	Liver
28	chr2:209162800-209170800	Strong transcription	HepG2	liver
29	chr2:209162800-209171400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:209162800-209171600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:209162800-209171800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:209162800-209173000	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:209163000-209170000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:209163000-209170800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:209163000-209171400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:209163000-209187400	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr2:209163200-209168200	Strong transcription	Fetal Brain Female	brain
38	chr2:209163200-209170200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:209163200-209170200	Strong transcription	Brain Hippocampus Middle	brain
40	chr2:209163200-209171200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:209163200-209171400	Strong transcription	Adipose Nuclei	Adipose
42	chr2:209163200-209171400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr2:209163200-209171400	Strong transcription	HUVEC	blood vessel
44	chr2:209163200-209171600	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:209163200-209177000	Strong transcription	Primary hematopoietic stem cells	blood
46	chr2:209163200-209180600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr2:209163200-209187400	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr2:209163400-209167200	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr2:209163400-209167200	Strong transcription	Stomach Smooth Muscle	stomach
50	chr2:209163400-209167200	Strong transcription	Thymus	Thymus

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