Variant report

Variant	rs10305514
Chromosome Location	chr6:39054138-39054139
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:39042906..39044931-chr6:39052683..39055087,2	MCF-7	breast:
2	chr6:39047800..39050333-chr6:39052277..39054288,2	K562	blood:
3	chr6:39052982..39054673-chr6:39056335..39058628,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10305518	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs183464	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2268637	1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.95[ASN][1000 genomes]
rs2268638	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs57143316	0.84[ASN][1000 genomes]
rs61086156	0.86[ASN][1000 genomes]
rs73734044	0.84[ASN][1000 genomes]
rs9918349	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028088	chr6:38821047-39163549	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv538205	chr6:38821047-39163549	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv528286	chr6:39019503-39060478	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv519907	chr6:39032415-39055012	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1031922	chr6:39034484-39060762	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv462919	chr6:39050384-39062990	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv602963	chr6:39050384-39062990	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39021200-39072000	Weak transcription	Gastric	stomach
2	chr6:39024200-39057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:39027400-39073000	Weak transcription	Pancreas	Pancrea
4	chr6:39043400-39082000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:39050400-39055000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:39050400-39055600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:39050800-39055200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr6:39052200-39054200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:39052200-39054400	Enhancers	Fetal Lung	lung
10	chr6:39052200-39055800	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:39052600-39056200	Enhancers	Stomach Smooth Muscle	stomach
12	chr6:39052600-39060400	Enhancers	Fetal Heart	heart
13	chr6:39052800-39056000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:39053000-39072400	Weak transcription	Brain Germinal Matrix	brain
15	chr6:39053200-39054200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:39053400-39054800	Enhancers	Left Ventricle	heart
17	chr6:39053400-39055600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:39053400-39057200	Weak transcription	Lung	lung
19	chr6:39053400-39059600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:39053600-39054600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:39053600-39054800	Enhancers	GM12878-XiMat	blood
22	chr6:39053800-39054600	Weak transcription	Right Ventricle	heart
23	chr6:39053800-39058400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr6:39053800-39058600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr6:39054000-39054400	Enhancers	Right Atrium	heart
26	chr6:39054000-39054600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:39054000-39057800	Enhancers	Psoas Muscle	Psoas

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