Variant report

Variant	rs11638953
Chromosome Location	chr15:42245652-42245653
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	chr15:42245397..42247652-chr15:42344878..42346983,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11631075	0.81[CEU][hapmap]
rs11638729	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1451048	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2665213	0.81[CEU][hapmap]
rs4244586	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8035074	1.00[CEU][hapmap];0.80[JPT][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv427958	chr15:42051317-42301283	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1038933	chr15:42138456-42309087	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
5	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv1054728	chr15:42177772-42310009	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
8	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42222200-42249800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr15:42227600-42249200	Weak transcription	Small Intestine	intestine
3	chr15:42230000-42248400	Strong transcription	GM12878-XiMat	blood
4	chr15:42230000-42249600	Weak transcription	K562	blood
5	chr15:42230400-42262200	Weak transcription	Thymus	Thymus
6	chr15:42230800-42247000	Weak transcription	Fetal Thymus	thymus
7	chr15:42230800-42249400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:42231200-42249800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr15:42231600-42250000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr15:42238200-42250200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:42239400-42246400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:42239600-42247400	Weak transcription	Psoas Muscle	Psoas
13	chr15:42240200-42248000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:42240400-42251800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:42240400-42252600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:42241000-42249600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:42241200-42259200	Weak transcription	Brain Anterior Caudate	brain
18	chr15:42241400-42245800	Genic enhancers	HUVEC	blood vessel
19	chr15:42241600-42246200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:42241600-42246600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:42241600-42247000	Strong transcription	Fetal Intestine Small	intestine
22	chr15:42242000-42245800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr15:42242000-42246000	Strong transcription	HMEC	breast
24	chr15:42242000-42246200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr15:42242000-42246400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr15:42242000-42246400	Strong transcription	NHEK	skin
27	chr15:42242000-42246600	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr15:42242000-42250800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr15:42242200-42246000	Strong transcription	Primary T cells from cord blood	blood
30	chr15:42242200-42246000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:42242200-42246400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr15:42242400-42246400	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr15:42242400-42246600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr15:42242400-42246600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr15:42242400-42247400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:42242400-42249000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr15:42242600-42246200	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr15:42242600-42246400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:42242600-42246600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr15:42242600-42251200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr15:42242800-42245800	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr15:42242800-42246000	Strong transcription	Gastric	stomach
43	chr15:42242800-42246200	Strong transcription	Osteobl	bone
44	chr15:42242800-42246600	Strong transcription	Spleen	Spleen
45	chr15:42242800-42248000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr15:42242800-42249600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr15:42243000-42245800	Strong transcription	NH-A	brain
48	chr15:42243000-42246000	Strong transcription	Colonic Mucosa	Colon
49	chr15:42243000-42246200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr15:42243000-42246200	Strong transcription	Fetal Intestine Large	intestine

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