Variant report

Variant	rs7782781
Chromosome Location	chr7:149536214-149536215
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	chr7:149466134..149470595-chr7:149532425..149537706,5	MCF-7	breast:
2	chr7:149470096..149472502-chr7:149535858..149537957,2	K562	blood:
3	chr7:149520950..149523634-chr7:149534004..149537065,3	K562	blood:
4	chr7:149535432..149538355-chr7:150102358..150106003,3	MCF-7	breast:
5	chr7:149516696..149519376-chr7:149534960..149537116,2	MCF-7	breast:
6	chr7:149535857..149538432-chr7:149551451..149554289,3	MCF-7	breast:
7	chr7:149534427..149538606-chr7:149567610..149571411,8	MCF-7	breast:
8	chr7:149520043..149524365-chr7:149535249..149538309,4	MCF-7	breast:
9	chr7:149534468..149539239-chr7:149549126..149555518,7	MCF-7	breast:
10	chr7:149536138..149537939-chr7:149539704..149541464,2	MCF-7	breast:
11	chr7:149534869..149537140-chr7:149569608..149571872,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000204934	Chromatin interaction
ENSG00000197558	Chromatin interaction
ENSG00000106479	Chromatin interaction
ENSG00000181444	Chromatin interaction
ENSG00000196456	Chromatin interaction
ENSG00000171130	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1004200	0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs1008335	0.94[ASN][1000 genomes]
rs10233245	0.88[ASN][1000 genomes]
rs10261203	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10261620	0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs10265226	0.89[CHB][hapmap];0.87[ASN][1000 genomes]
rs12674102	0.87[ASN][1000 genomes]
rs2072169	0.82[ASN][1000 genomes]
rs2074688	0.85[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs2074696	0.87[ASN][1000 genomes]
rs2074697	0.95[CHB][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs2247301	0.82[ASN][1000 genomes]
rs28623694	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3088250	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55776327	0.82[ASN][1000 genomes]
rs55866915	0.82[ASN][1000 genomes]
rs6464034	0.89[ASN][1000 genomes]
rs6957009	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs735499	0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs740113	0.90[ASN][1000 genomes]
rs7778489	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034350	chr7:149264094-149666356	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv539190	chr7:149264094-149666356	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1023901	chr7:149364044-149747442	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv539191	chr7:149364044-149747442	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv469576	chr7:149379626-149563233	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS 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 target site	21 gene(s)	inside rSNPs	diseases
6	nsv1031581	chr7:149386249-149570178	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv539192	chr7:149386249-149570178	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv831184	chr7:149424835-149600093	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	esv2758139	chr7:149441590-149956415	Strong transcription Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	esv2759571	chr7:149441590-149956415	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	nsv517242	chr7:149456359-149536214	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv889407	chr7:149458623-149536214	Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv889408	chr7:149458623-149539138	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv521861	chr7:149458623-149582906	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
15	nsv889409	chr7:149458623-149585379	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
16	nsv889411	chr7:149465674-149539138	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv889412	chr7:149472508-149536214	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
18	nsv1029471	chr7:149496177-149810381	Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
19	nsv539193	chr7:149496177-149810381	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
20	nsv1033095	chr7:149508083-149781872	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
21	nsv608987	chr7:149509981-149547703	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7782781	ABCB8	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149535000-149536400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:149535000-149536400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:149535000-149536400	Active TSS	Fetal Kidney	kidney
4	chr7:149535000-149536800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:149535200-149536400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr7:149535200-149536400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:149535200-149536400	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:149535200-149536400	Active TSS	Muscle Satellite Cultured Cells	--
9	chr7:149535200-149536400	Active TSS	NHDF-Ad	bronchial
10	chr7:149535200-149536600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:149535200-149536600	Active TSS	Fetal Brain Female	brain
12	chr7:149535200-149536600	Active TSS	HSMM	muscle
13	chr7:149535200-149536800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:149535200-149536800	Active TSS	Brain Germinal Matrix	brain
15	chr7:149535400-149536400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:149535400-149536400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:149535400-149536400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:149535400-149536400	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr7:149535400-149536400	Active TSS	Aorta	Aorta
20	chr7:149535400-149536400	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr7:149535400-149536400	Active TSS	Ovary	ovary
22	chr7:149535400-149536600	Active TSS	H1 Cell Line	embryonic stem cell
23	chr7:149535400-149536600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr7:149535400-149536600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:149535400-149536600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:149535400-149537000	Active TSS	NHLF	lung
27	chr7:149535600-149536400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr7:149535800-149536400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr7:149535800-149536400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr7:149535800-149536400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:149535800-149536400	Flanking Active TSS	Colonic Mucosa	Colon
32	chr7:149535800-149536600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:149535800-149536600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:149535800-149536600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr7:149535800-149537000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr7:149536000-149536400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:149536000-149536400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr7:149536000-149536400	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr7:149536000-149536400	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr7:149536000-149536400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:149536000-149536400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr7:149536000-149536400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:149536000-149536400	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr7:149536000-149536400	Flanking Active TSS	Liver	Liver
45	chr7:149536000-149536400	Flanking Active TSS	Fetal Muscle Trunk	muscle
46	chr7:149536000-149536400	Flanking Active TSS	Placenta	Placenta
47	chr7:149536000-149536400	Flanking Active TSS	Lung	lung
48	chr7:149536000-149536400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr7:149536000-149536400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr7:149536000-149536400	Flanking Active TSS	Right Atrium	heart

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