Variant report

Variant	rs12678441
Chromosome Location	chr8:102616691-102616692
allele	G/T
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102576342..102577944-chr8:102615348..102618284,2	MCF-7	breast:
2	chr8:102607349..102609385-chr8:102616212..102618619,2	MCF-7	breast:
3	chr8:102216396..102218957-chr8:102616180..102618442,2	MCF-7	breast:
4	chr8:102485606..102488028-chr8:102616405..102618430,2	MCF-7	breast:
5	chr8:102534483..102536377-chr8:102615774..102617474,2	MCF-7	breast:
6	chr8:102588119..102597900-chr8:102614552..102624670,18	MCF-7	breast:
7	chr8:102607733..102610045-chr8:102616611..102619932,3	MCF-7	breast:
8	chr8:102611534..102613191-chr8:102616243..102617957,2	K562	blood:
9	chr14:105285718..105288102-chr8:102614917..102617459,2	MCF-7	breast:
10	chr8:102342594..102345253-chr8:102614500..102617128,2	MCF-7	breast:
11	chr8:102614548..102616839-chr8:102636990..102639158,2	K562	blood:
12	chr8:102599624..102601949-chr8:102615535..102617652,3	MCF-7	breast:
13	chr8:102497120..102519676-chr8:102608888..102627613,87	MCF-7	breast:
14	chr8:102570444..102572768-chr8:102615878..102617763,2	MCF-7	breast:
15	chr8:102594059..102599317-chr8:102614223..102621570,11	MCF-7	breast:
16	chr8:102615893..102618157-chr8:103666237..103668116,2	MCF-7	breast:
17	chr8:102503101..102510814-chr8:102611042..102623761,44	MCF-7	breast:
18	chr8:102611417..102613191-chr8:102615722..102617957,2	K562	blood:
19	chr8:102514177..102518015-chr8:102614637..102617886,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000155090	Chromatin interaction
ENSG00000258701	Chromatin interaction
ENSG00000254024	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000120963	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10095196	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10095480	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10955259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10955261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11783504	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12541858	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12544314	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12678894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1404949	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1573279	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1573280	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1573281	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1573282	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1573283	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16867971	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs2030783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030786	0.87[CEU][hapmap]
rs2211918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2507794	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2507795	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35890104	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4002334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4305864	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4392865	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4588817	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4593516	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4734027	0.88[CEU][hapmap]
rs4734028	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4734544	1.00[CEU][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4734545	1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4734546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734549	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4734551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4734553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4734557	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4734558	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4734559	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4734560	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5023181	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs503895	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs567029	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs579505	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs6468780	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6468781	0.90[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6468782	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7462010	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7819613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7820809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7821380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823289	0.88[CEU][hapmap]
rs7824065	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7835187	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7835323	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7836018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7836164	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838863	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7838983	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7845751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9642972	0.84[CEU][hapmap]
rs9649995	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][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	esv2757285	chr8:102609474-102649681	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2759635	chr8:102609474-102649681	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2761235	chr8:102613079-102646059	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102552200-102620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:102590600-102631600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:102590600-102635200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:102597400-102620600	Weak transcription	Colonic Mucosa	Colon
5	chr8:102600600-102619200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:102607800-102617000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:102611600-102617200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:102612800-102617000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:102612800-102617600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:102612800-102623000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:102613000-102617000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr8:102613000-102618800	Weak transcription	Pancreas	Pancrea
13	chr8:102613200-102617200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:102614400-102617800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:102614800-102617000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:102614800-102619000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:102614800-102619000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:102615000-102616800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:102615000-102616800	Enhancers	Fetal Heart	heart
20	chr8:102615000-102617000	Enhancers	HMEC	breast
21	chr8:102615000-102617400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:102615000-102619800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:102615000-102621600	Enhancers	Stomach Mucosa	stomach
24	chr8:102615200-102618600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:102615200-102620400	Weak transcription	Esophagus	oesophagus
26	chr8:102615200-102623000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:102615400-102617200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:102615600-102617000	Enhancers	NHDF-Ad	bronchial
29	chr8:102615800-102616800	Enhancers	Fetal Muscle Leg	muscle
30	chr8:102615800-102616800	Enhancers	Placenta	Placenta
31	chr8:102615800-102616800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr8:102615800-102617000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:102615800-102617000	Enhancers	Colon Smooth Muscle	Colon
34	chr8:102615800-102617000	Enhancers	Duodenum Mucosa	Duodenum
35	chr8:102615800-102617000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr8:102615800-102617400	Enhancers	A549	lung
37	chr8:102615800-102617600	Enhancers	Fetal Intestine Large	intestine
38	chr8:102615800-102621400	Enhancers	Fetal Intestine Small	intestine
39	chr8:102616000-102616800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:102616000-102616800	Enhancers	Fetal Stomach	stomach
41	chr8:102616000-102617000	Enhancers	Hela-S3	cervix
42	chr8:102616000-102617400	Enhancers	Rectal Smooth Muscle	rectum
43	chr8:102616200-102616800	Enhancers	Adipose Nuclei	Adipose
44	chr8:102616200-102616800	Enhancers	Fetal Kidney	kidney
45	chr8:102616200-102616800	Enhancers	Fetal Lung	lung
46	chr8:102616200-102616800	Enhancers	HUVEC	blood vessel
47	chr8:102616200-102617000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr8:102616200-102618000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:102616200-102618200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr8:102616200-102623600	Weak transcription	Right Atrium	heart

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