Variant report

Variant	rs3800086
Chromosome Location	chr6:1834156-1834157
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:1611913..1614321-chr6:1833472..1836057,3	MCF-7	breast:
2	chr6:1831250..1835471-chr6:1835503..1841068,8	MCF-7	breast:
3	chr6:1833159..1835523-chr6:1854062..1855942,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13197177	0.84[TSI][hapmap]
rs13204935	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs3800090	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs3800105	0.81[JPT][hapmap];0.84[TSI][hapmap]
rs3823276	1.00[YRI][hapmap]
rs6596858	0.81[JPT][hapmap];0.84[TSI][hapmap]
rs6912444	0.82[ASW][hapmap];0.90[JPT][hapmap];0.86[LWK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap]
rs9501779	1.00[YRI][hapmap]
rs9503031	0.81[JPT][hapmap];0.84[TSI][hapmap]
rs9503032	1.00[MEX][hapmap]
rs9503036	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription 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	76 gene(s)	inside rSNPs	diseases
2	nsv491607	chr6:1580681-1951526	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1020603	chr6:1697548-1921374	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv538093	chr6:1697548-1921374	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv869043	chr6:1744238-2006788	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv538094	chr6:1757776-1907505	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv931941	chr6:1768439-2246781	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
9	nsv883383	chr6:1775436-1918572	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv883384	chr6:1787862-1942538	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1019895	chr6:1832936-1882435	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3800086	BPHL	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1822600-1837600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:1829400-1837800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:1829800-1856600	Weak transcription	Primary T cells from cord blood	blood
4	chr6:1831800-1838000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:1832800-1834200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:1832800-1834200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:1832800-1835200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:1832800-1835200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:1833000-1840000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:1833200-1834400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:1833200-1834600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:1833200-1835600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr6:1833200-1835600	Enhancers	Fetal Kidney	kidney
14	chr6:1833400-1834200	Enhancers	HUVEC	blood vessel
15	chr6:1833400-1835400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:1833400-1836000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:1833400-1838000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr6:1833400-1838000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:1833400-1843800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:1833400-1845800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr6:1833400-1856600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:1833600-1837800	Weak transcription	Ovary	ovary
23	chr6:1833600-1838000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:1833600-1838000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:1833600-1838400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:1833600-1838400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr6:1833600-1839400	Weak transcription	Aorta	Aorta
28	chr6:1833600-1839400	Weak transcription	Stomach Mucosa	stomach
29	chr6:1833600-1840000	Weak transcription	Pancreas	Pancrea
30	chr6:1833600-1840400	Weak transcription	Osteobl	bone
31	chr6:1833600-1842000	Weak transcription	Left Ventricle	heart
32	chr6:1833600-1842000	Weak transcription	Right Atrium	heart
33	chr6:1833600-1842400	Weak transcription	Gastric	stomach
34	chr6:1833600-1843000	Weak transcription	Fetal Intestine Small	intestine
35	chr6:1833600-1845800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr6:1833600-1846000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr6:1833600-1849600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr6:1833800-1835400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr6:1833800-1837600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:1833800-1837800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:1833800-1838000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr6:1833800-1838000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr6:1833800-1838000	Weak transcription	Adipose Nuclei	Adipose
44	chr6:1833800-1838000	Weak transcription	NH-A	brain
45	chr6:1833800-1838200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:1833800-1839200	Weak transcription	Liver	Liver
47	chr6:1833800-1842000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr6:1834000-1834800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr6:1834000-1837800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr6:1834000-1848000	Weak transcription	HepG2	liver

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