Variant report

Variant	rs672534
Chromosome Location	chr11:75097031-75097032
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75044718..75047036-chr11:75095473..75097237,2	MCF-7	breast:
2	chr11:75094569..75097338-chr11:75239172..75241375,2	K562	blood:
3	chr11:74988985..74991037-chr11:75095518..75097314,2	MCF-7	breast:
4	chr11:75062452..75064201-chr11:75095709..75098520,2	K562	blood:
5	chr11:75062740..75066296-chr11:75093335..75097226,4	MCF-7	breast:
6	chr11:75092274..75095773-chr11:75096854..75099923,3	K562	blood:
7	chr11:74990165..74992866-chr11:75095168..75097303,2	K562	blood:
8	chr11:75096672..75098515-chr11:75110418..75112782,2	MCF-7	breast:
9	chr11:75090671..75094563-chr11:75095690..75099742,4	K562	blood:
10	chr11:75090369..75092612-chr11:75094388..75097255,4	MCF-7	breast:
11	chr11:75039130..75041813-chr11:75096060..75098275,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000149273	Chromatin interaction
ENSG00000137486	Chromatin interaction
ENSG00000206941	Chromatin interaction
ENSG00000199090	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11236417	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[ASN][1000 genomes]
rs11236420	0.92[ASN][1000 genomes]
rs12363921	0.85[ASN][1000 genomes]
rs2851459	0.81[CEU][hapmap];0.86[GIH][hapmap];0.89[MEX][hapmap]
rs3016302	0.88[ASN][1000 genomes]
rs3016304	0.92[ASN][1000 genomes]
rs473233	0.91[ASN][1000 genomes]
rs473961	0.88[ASN][1000 genomes]
rs475099	0.87[ASN][1000 genomes]
rs475161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs477625	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs477783	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];0.92[ASN][1000 genomes]
rs478777	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs489691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs504683	0.81[CEU][hapmap]
rs515343	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs521455	0.92[ASN][1000 genomes]
rs532279	0.99[ASN][1000 genomes]
rs536516	1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs536538	0.92[ASN][1000 genomes]
rs542784	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs542944	0.92[ASN][1000 genomes]
rs546715	1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs552129	0.93[ASN][1000 genomes]
rs555875	1.00[JPT][hapmap]
rs561923	0.89[MEX][hapmap]
rs566567	0.89[MEX][hapmap]
rs567647	0.99[ASN][1000 genomes]
rs569796	0.81[CEU][hapmap]
rs575781	0.99[ASN][1000 genomes]
rs576508	0.91[ASN][1000 genomes]
rs580152	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598062	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs598936	1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs613248	0.92[ASN][1000 genomes]
rs613690	0.85[ASN][1000 genomes]
rs627133	0.89[CHB][hapmap];0.93[JPT][hapmap];0.86[YRI][hapmap];0.93[ASN][1000 genomes]
rs629991	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[ASN][1000 genomes]
rs630429	0.83[ASN][1000 genomes]
rs646360	0.84[ASN][1000 genomes]
rs654079	0.87[ASN][1000 genomes]
rs663235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs686020	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
3	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs672534	IL18BP	cis	parietal	SCAN
rs672534	KCNE3	cis	parietal	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75083800-75099400	Weak transcription	Right Atrium	heart
2	chr11:75087400-75099400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:75092000-75098200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:75092000-75099400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:75092200-75098000	Weak transcription	HSMMtube	muscle
6	chr11:75092200-75099400	Weak transcription	Pancreas	Pancrea
7	chr11:75092400-75098400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:75092400-75099400	Weak transcription	Colonic Mucosa	Colon
9	chr11:75092400-75099400	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:75092400-75099400	Weak transcription	Spleen	Spleen
11	chr11:75093000-75098200	Weak transcription	Lung	lung
12	chr11:75094200-75100400	Enhancers	Placenta	Placenta
13	chr11:75094400-75098400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:75094600-75098000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:75094600-75098800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:75094600-75099400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:75094600-75099400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:75094800-75097200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:75094800-75098200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:75094800-75099400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:75094800-75099600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:75094800-75100200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr11:75095400-75100000	Enhancers	HUVEC	blood vessel
24	chr11:75095600-75099600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr11:75095800-75098000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:75095800-75098800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:75095800-75099400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:75095800-75099400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:75095800-75099400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:75095800-75099600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:75096000-75097200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr11:75096000-75097400	Weak transcription	Fetal Intestine Small	intestine
33	chr11:75096000-75097600	Weak transcription	Fetal Intestine Large	intestine
34	chr11:75096000-75098200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:75096000-75098200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr11:75096000-75098200	Enhancers	A549	lung
37	chr11:75096000-75098200	Weak transcription	K562	blood
38	chr11:75096000-75098400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:75096000-75099000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:75096000-75099400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr11:75096000-75099400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:75096000-75099400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:75096000-75099400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr11:75096000-75099400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:75096000-75099400	Weak transcription	Adipose Nuclei	Adipose
46	chr11:75096000-75099400	Weak transcription	Liver	Liver
47	chr11:75096000-75099400	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:75096000-75099400	Weak transcription	Brain Substantia Nigra	brain
49	chr11:75096000-75099400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:75096000-75099400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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