Variant report

Variant	rs4712942
Chromosome Location	chr6:25470247-25470248
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	chr6:25461549..25464417-chr6:25470199..25472256,2	K562	blood:
2	chr6:25468074..25470754-chr6:25473193..25474888,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1028885	0.81[CHB][hapmap]
rs10498726	1.00[CEU][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12173289	1.00[YRI][hapmap]
rs12525342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16890640	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs169978	1.00[YRI][hapmap]
rs215013	1.00[YRI][hapmap]
rs2690054	1.00[YRI][hapmap]
rs35330592	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41271813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41368745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4712943	1.00[CEU][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6900224	0.81[CHB][hapmap]
rs73734011	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73734013	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7454031	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs969645	0.81[CEU][hapmap];0.82[CHB][hapmap]

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	nsv883487	chr6:25280119-25508868	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830612	chr6:25342408-25509758	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv432856	chr6:25468825-25494666	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25433400-25472600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:25436200-25481400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:25438200-25472600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:25443200-25472600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:25446800-25493600	Weak transcription	Left Ventricle	heart
6	chr6:25446800-25504400	Weak transcription	Primary B cells from cord blood	blood
7	chr6:25447400-25473200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr6:25448200-25472600	Weak transcription	Pancreas	Pancrea
9	chr6:25449400-25515800	Weak transcription	Lung	lung
10	chr6:25450400-25488400	Weak transcription	Fetal Intestine Large	intestine
11	chr6:25452200-25473000	Weak transcription	Fetal Intestine Small	intestine
12	chr6:25452400-25476000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr6:25454200-25472800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:25455800-25476000	Weak transcription	Aorta	Aorta
15	chr6:25456400-25499200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:25456400-25515800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:25456400-25537000	Weak transcription	Esophagus	oesophagus
18	chr6:25459000-25473000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:25459800-25471400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:25460200-25472000	Weak transcription	HMEC	breast
21	chr6:25460200-25476000	Weak transcription	NHEK	skin
22	chr6:25462800-25477600	Weak transcription	Brain Anterior Caudate	brain
23	chr6:25463000-25472600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:25463000-25474600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:25463000-25476000	Weak transcription	HSMMtube	muscle
26	chr6:25463000-25490000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr6:25463200-25473000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:25463200-25481200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:25463200-25532200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:25463800-25487400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:25464000-25498800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr6:25464200-25518400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr6:25464600-25473000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr6:25464800-25472600	Weak transcription	Fetal Thymus	thymus
35	chr6:25464800-25472600	Weak transcription	Thymus	Thymus
36	chr6:25464800-25475000	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr6:25464800-25490000	Weak transcription	Hela-S3	cervix
38	chr6:25465000-25482800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:25465200-25472800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr6:25465200-25476200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr6:25465400-25470600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:25465400-25472600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr6:25465400-25472800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr6:25465400-25476000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:25465400-25499000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr6:25465600-25473000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr6:25466200-25476400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:25466400-25516000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:25466800-25515800	Weak transcription	Fetal Stomach	stomach
50	chr6:25467600-25471000	Weak transcription	Primary T cells from cord blood	blood

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