Variant report

Variant	rs11634630
Chromosome Location	chr15:73067234-73067235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:73006465..73009251-chr15:73067136..73069749,2	K562	blood:
2	chr15:73064606..73067353-chr15:73384208..73386751,2	MCF-7	breast:
3	chr15:73013682..73015798-chr15:73066928..73069614,2	K562	blood:

Variant related genes	Relation type
ENSG00000140463	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11072381	0.91[YRI][hapmap];0.91[AFR][1000 genomes]
rs11072382	1.00[ASW][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs12324395	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs12902880	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs12903320	0.92[YRI][hapmap];0.87[AFR][1000 genomes]
rs12914333	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs1991288	0.87[AFR][1000 genomes]
rs4238454	0.92[YRI][hapmap];0.98[AFR][1000 genomes]
rs4274404	1.00[AFR][1000 genomes]
rs4776612	0.81[YRI][hapmap]
rs4777539	1.00[AMR][1000 genomes]
rs7182527	0.92[YRI][hapmap];0.91[AFR][1000 genomes]
rs7182789	1.00[YRI][hapmap]
rs8038907	0.91[AFR][1000 genomes]
rs8039792	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9806635	0.96[AFR][1000 genomes]
rs9806649	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs9806685	1.00[YRI][hapmap];0.98[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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 miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers 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	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73041800-73071000	Strong transcription	Liver	Liver
2	chr15:73043800-73073600	Strong transcription	Fetal Thymus	thymus
3	chr15:73044200-73067600	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr15:73045000-73074200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:73045200-73074200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:73045600-73067400	Strong transcription	Placenta	Placenta
7	chr15:73046800-73067600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr15:73048600-73075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:73057200-73069600	Strong transcription	Hela-S3	cervix
10	chr15:73057800-73067800	Weak transcription	Fetal Heart	heart
11	chr15:73058400-73069000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:73058600-73067400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
13	chr15:73059200-73069600	Strong transcription	HSMM	muscle
14	chr15:73060000-73067400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr15:73060000-73074000	Weak transcription	Stomach Mucosa	stomach
16	chr15:73060000-73075000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr15:73060200-73067400	Strong transcription	Duodenum Mucosa	Duodenum
18	chr15:73060200-73067400	Strong transcription	NH-A	brain
19	chr15:73060200-73067800	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr15:73060200-73075200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr15:73060400-73067400	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr15:73060400-73067600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:73060400-73068200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:73060400-73070800	Strong transcription	Dnd41	blood
25	chr15:73060400-73073200	Weak transcription	Colon Smooth Muscle	Colon
26	chr15:73060600-73067400	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr15:73060600-73068000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr15:73060600-73068200	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:73060600-73072000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr15:73061200-73067400	Strong transcription	Fetal Brain Female	brain
31	chr15:73061200-73067600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr15:73061200-73067800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr15:73061200-73068000	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr15:73061200-73068200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:73061200-73070000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:73061400-73068000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr15:73061400-73068000	Strong transcription	Fetal Intestine Large	intestine
38	chr15:73061400-73068200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:73061400-73073400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr15:73061400-73073600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr15:73061400-73075000	Weak transcription	Fetal Kidney	kidney
42	chr15:73061600-73067400	Strong transcription	Thymus	Thymus
43	chr15:73061600-73067600	Strong transcription	A549	lung
44	chr15:73061800-73067600	Strong transcription	Fetal Stomach	stomach
45	chr15:73061800-73067600	Strong transcription	HSMMtube	muscle
46	chr15:73061800-73068200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:73061800-73068600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr15:73062000-73067400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:73062000-73068200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr15:73062000-73068600	Strong transcription	K562	blood

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