Variant report

Variant	rs4639324
Chromosome Location	chr6:53703466-53703467
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:53657031..53659924-chr6:53702076..53704577,3	MCF-7	breast:
2	chr6:53658025..53659748-chr6:53702449..53704246,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228614	Chromatin interaction
ENSG00000137269	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10456165	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10456673	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap]
rs10456674	1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[TSI][hapmap]
rs10948782	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948785	0.89[AMR][1000 genomes]
rs11962552	0.87[CHD][hapmap];0.93[MEX][hapmap];0.81[TSI][hapmap]
rs11970064	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12192118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192689	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195491	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12200971	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201245	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12201913	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12202128	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12202762	1.00[CHB][hapmap]
rs12204130	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12206209	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12211130	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12211680	0.86[JPT][hapmap]
rs12213392	0.86[JPT][hapmap]
rs12213577	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12214863	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13211528	1.00[JPT][hapmap]
rs17748374	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35971619	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3935663	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4389767	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55678884	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55931905	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6919015	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7739668	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7745930	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7762326	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[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	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1021506	chr6:53600338-53770482	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv830664	chr6:53698021-53825270	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53680400-53721600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:53684000-53710200	Weak transcription	Primary T cells from cord blood	blood
3	chr6:53693400-53720000	Weak transcription	Left Ventricle	heart
4	chr6:53694000-53708400	Weak transcription	Fetal Thymus	thymus
5	chr6:53695000-53705600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:53695000-53710000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:53695000-53719800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:53695000-53743200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:53696400-53708400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:53697200-53718600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:53698000-53715600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:53699000-53704800	Weak transcription	Fetal Intestine Small	intestine
13	chr6:53699400-53709200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:53700000-53704800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:53700400-53709200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:53702000-53704600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:53702200-53703600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr6:53702200-53704400	Enhancers	Colon Smooth Muscle	Colon
19	chr6:53702400-53703600	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr6:53702400-53703600	Enhancers	Fetal Heart	heart
21	chr6:53702600-53703600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr6:53702600-53703600	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr6:53702600-53703600	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr6:53702600-53704000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:53702800-53703600	Enhancers	HepG2	liver
26	chr6:53703000-53703800	Enhancers	Stomach Smooth Muscle	stomach
27	chr6:53703000-53704400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:53703000-53705800	Weak transcription	Thymus	Thymus
29	chr6:53703000-53708600	Weak transcription	Gastric	stomach
30	chr6:53703000-53718600	Weak transcription	Pancreas	Pancrea
31	chr6:53703200-53703600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:53703200-53705600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:53703200-53710400	Weak transcription	HUVEC	blood vessel
34	chr6:53703200-53720000	Weak transcription	HSMMtube	muscle
35	chr6:53703200-53720200	Weak transcription	Aorta	Aorta
36	chr6:53703200-53726400	Weak transcription	Fetal Stomach	stomach
37	chr6:53703400-53703600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr6:53703400-53704200	Weak transcription	Brain Angular Gyrus	brain
39	chr6:53703400-53704400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr6:53703400-53704400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:53703400-53704400	Enhancers	Brain Substantia Nigra	brain
42	chr6:53703400-53704600	Enhancers	Rectal Smooth Muscle	rectum
43	chr6:53703400-53704800	Enhancers	Brain Germinal Matrix	brain
44	chr6:53703400-53705600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:53703400-53707400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:53703400-53710200	Weak transcription	Brain Cingulate Gyrus	brain

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