Variant report

Variant	rs12515522
Chromosome Location	chr5:37226237-37226238
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	chr5:37225065..37226567-chr5:37275200..37277689,2	K562	blood:
2	chr5:37217019..37219861-chr5:37224561..37226290,2	MCF-7	breast:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10037834	0.81[EUR][1000 genomes]
rs10043395	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10052880	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10056009	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10057270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10068328	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10068501	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10069109	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs10072064	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10072288	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10076911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10805625	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10941320	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10941322	0.96[ASN][1000 genomes]
rs10941324	0.84[AMR][1000 genomes]
rs11958752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12108953	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12110010	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12110069	0.88[EUR][1000 genomes]
rs12186733	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12515518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12515577	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12518867	0.82[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13356615	0.82[ASN][1000 genomes]
rs16903526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16903578	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17511925	0.84[AMR][1000 genomes]
rs2055129	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2081109	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2270559	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2365910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2365912	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2366275	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2886505	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs301861	0.88[EUR][1000 genomes]
rs301862	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs301864	0.85[EUR][1000 genomes]
rs301866	0.88[EUR][1000 genomes]
rs301868	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs301870	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs301871	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs301876	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs301877	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs301890	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs301891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs301892	1.00[CEU][hapmap]
rs301893	1.00[CEU][hapmap]
rs301895	1.00[CEU][hapmap]
rs301902	0.82[ASN][1000 genomes]
rs301903	0.82[ASN][1000 genomes]
rs301904	1.00[CEU][hapmap]
rs301907	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs301910	0.88[EUR][1000 genomes]
rs301911	0.88[EUR][1000 genomes]
rs301914	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs301915	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs301916	0.85[EUR][1000 genomes]
rs59278603	0.84[EUR][1000 genomes]
rs59324297	0.81[EUR][1000 genomes]
rs59842820	0.81[EUR][1000 genomes]
rs6859227	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73068411	0.81[EUR][1000 genomes]
rs73750950	0.91[EUR][1000 genomes]
rs7712984	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724454	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs9292649	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9687825	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers 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	28 gene(s)	inside rSNPs	diseases
4	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
9	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv597823	chr5:37111565-37430365	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
15	nsv830265	chr5:37152221-37312233	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv530227	chr5:37157106-37571999	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
17	nsv968904	chr5:37170434-37231344	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv880406	chr5:37173930-37345270	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
19	nsv880839	chr5:37173930-37465126	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
20	nsv948741	chr5:37179341-37582164	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
21	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
22	nsv597824	chr5:37206621-37409579	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
23	nsv597825	chr5:37206621-37430365	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37170400-37235600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:37171600-37249000	Weak transcription	Spleen	Spleen
3	chr5:37174000-37229600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:37198400-37236200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:37198600-37226400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:37198600-37226400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:37209400-37234800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:37209600-37226600	Weak transcription	NHLF	lung
9	chr5:37209600-37233400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:37209600-37239800	Weak transcription	Small Intestine	intestine
11	chr5:37209600-37240200	Weak transcription	Colonic Mucosa	Colon
12	chr5:37209600-37248000	Weak transcription	Gastric	stomach
13	chr5:37209600-37248400	Weak transcription	NHEK	skin
14	chr5:37209800-37228600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:37210600-37228200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:37210800-37228000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:37211000-37228200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:37211200-37228000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:37211200-37237400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:37211800-37232600	Weak transcription	Esophagus	oesophagus
21	chr5:37211800-37234400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:37213400-37236200	Weak transcription	Right Ventricle	heart
23	chr5:37214000-37226400	Weak transcription	HepG2	liver
24	chr5:37214000-37233600	Weak transcription	Fetal Brain Male	brain
25	chr5:37214400-37228000	Strong transcription	Adipose Nuclei	Adipose
26	chr5:37214600-37226600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr5:37215000-37227600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr5:37215000-37230000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr5:37215000-37237000	Weak transcription	Fetal Heart	heart
30	chr5:37215000-37248400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:37215200-37226600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:37215200-37227000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr5:37215200-37227000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr5:37215200-37232400	Weak transcription	Primary T cells from cord blood	blood
35	chr5:37215200-37233800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr5:37215200-37234000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:37215200-37248200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr5:37215400-37226600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr5:37215600-37227600	Weak transcription	Primary B cells from cord blood	blood
40	chr5:37215800-37228600	Strong transcription	Dnd41	blood
41	chr5:37216000-37228000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:37216200-37227800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:37216200-37227800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr5:37216600-37227800	Strong transcription	Fetal Thymus	thymus
45	chr5:37216600-37233200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:37216600-37237000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:37216600-37248000	Weak transcription	Pancreas	Pancrea
48	chr5:37217000-37233200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:37218200-37227800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:37218200-37227800	Strong transcription	Duodenum Smooth Muscle	Duodenum

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