Variant report

Variant	rs12540183
Chromosome Location	chr7:150664141-150664142
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150662400..150665695-chr7:150674659..150677130,3	MCF-7	breast:
2	chr7:150663758..150666367-chr7:150811636..150813579,2	MCF-7	breast:
3	chr7:150661035..150665420-chr7:150665668..150673641,9	MCF-7	breast:
4	chr7:150661173..150665225-chr7:150669426..150673358,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000055118	Chromatin interaction
ENSG00000133612	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1137617	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11763131	0.94[ASN][1000 genomes]
rs13244889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2907947	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2968853	0.86[EUR][1000 genomes]
rs2968855	0.86[EUR][1000 genomes]
rs2968857	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968860	0.88[ASN][1000 genomes]
rs2968862	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3800779	0.81[ASN][1000 genomes]
rs3807373	0.94[ASN][1000 genomes]
rs4725980	0.81[EUR][1000 genomes]
rs4725983	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs731724	0.85[EUR][1000 genomes]
rs882156	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs887586	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
4	nsv465212	chr7:150598492-150667210	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv609000	chr7:150598492-150667210	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465213	chr7:150606288-150667210	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv609001	chr7:150606288-150667210	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	nsv889463	chr7:150640285-150700946	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
12	nsv889466	chr7:150642341-150687430	Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
13	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
14	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
15	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
16	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
17	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv889468	chr7:150652419-150696111	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
19	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150652800-150666400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:150657200-150669600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:150658000-150665800	Enhancers	Fetal Muscle Leg	muscle
4	chr7:150658200-150670800	Enhancers	Rectal Smooth Muscle	rectum
5	chr7:150658600-150666000	Enhancers	Colon Smooth Muscle	Colon
6	chr7:150658600-150666200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:150658800-150670400	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr7:150660200-150668200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:150660400-150668000	Weak transcription	Brain Substantia Nigra	brain
10	chr7:150660600-150666000	Weak transcription	Fetal Intestine Small	intestine
11	chr7:150660600-150666400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:150660600-150666800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:150661200-150666000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:150661800-150666000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:150661800-150670400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr7:150662000-150664400	Weak transcription	Fetal Brain Female	brain
17	chr7:150662000-150666000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:150662200-150665400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr7:150662200-150665600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:150662200-150665800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:150662200-150666000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:150662200-150666200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:150662400-150666000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:150662400-150666000	Weak transcription	Right Atrium	heart
25	chr7:150662600-150666000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:150662600-150666400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:150662600-150667400	Weak transcription	Spleen	Spleen
28	chr7:150663000-150665800	Weak transcription	Lung	lung
29	chr7:150663000-150666000	Weak transcription	Brain Anterior Caudate	brain
30	chr7:150663000-150666200	Weak transcription	Brain Hippocampus Middle	brain
31	chr7:150663000-150666600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:150663200-150664600	Weak transcription	Fetal Brain Male	brain
33	chr7:150663200-150664600	Enhancers	Fetal Heart	heart
34	chr7:150663200-150665800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:150663400-150664400	Weak transcription	Fetal Lung	lung
36	chr7:150663400-150664400	Enhancers	Stomach Smooth Muscle	stomach
37	chr7:150663400-150664600	Enhancers	Fetal Stomach	stomach
38	chr7:150663400-150665000	Weak transcription	Right Ventricle	heart
39	chr7:150663400-150665400	Enhancers	Placenta	Placenta
40	chr7:150663400-150665400	Weak transcription	Left Ventricle	heart
41	chr7:150663400-150665800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr7:150663400-150665800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:150663400-150668200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:150664000-150665200	Weak transcription	K562	blood
45	chr7:150664000-150670000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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