Variant report

Variant	rs10250405
Chromosome Location	chr7:137556148-137556149
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137555025..137557562-chr7:137558269..137560662,2	MCF-7	breast:
2	chr7:137553992..137556537-chr7:137565349..137567056,2	K562	blood:
3	chr7:137548182..137551926-chr7:137553718..137556489,3	K562	blood:
4	chr7:137554665..137556527-chr7:137556593..137558804,2	K562	blood:
5	chr7:137556014..137557927-chr7:137560884..137562651,2	MCF-7	breast:
6	chr7:137555044..137558003-chr7:137668755..137670385,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10954590	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3735016	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735019	0.81[ASN][1000 genomes]
rs3735020	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3778823	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs6943538	0.94[CHB][hapmap]
rs6958842	0.94[CHB][hapmap];0.85[ASN][1000 genomes]
rs6959012	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6971738	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6976638	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6976928	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6977828	0.87[ASN][1000 genomes]
rs769037	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs769038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs881505	0.94[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	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137532200-137556400	Weak transcription	Esophagus	oesophagus
2	chr7:137533800-137575400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:137534200-137563000	Weak transcription	HMEC	breast
4	chr7:137535200-137562600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:137536200-137557800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:137537400-137559000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:137540800-137557200	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:137542000-137558400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:137542600-137557200	Weak transcription	Spleen	Spleen
10	chr7:137543400-137557200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:137543400-137557800	Strong transcription	NH-A	brain
12	chr7:137543400-137566800	Strong transcription	Placenta	Placenta
13	chr7:137543800-137557400	Strong transcription	Osteobl	bone
14	chr7:137544000-137556200	Weak transcription	Fetal Intestine Small	intestine
15	chr7:137545000-137564200	Weak transcription	Small Intestine	intestine
16	chr7:137546200-137560000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:137546400-137558600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:137546400-137562600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:137546400-137564000	Weak transcription	Brain Angular Gyrus	brain
20	chr7:137547200-137562200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:137547400-137561400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:137547800-137557200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:137547800-137567200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:137548000-137562000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr7:137548200-137557200	Weak transcription	Lung	lung
26	chr7:137548200-137558600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:137548400-137563200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr7:137549200-137560000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:137550200-137559200	Weak transcription	Fetal Kidney	kidney
30	chr7:137550200-137564400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:137550400-137559200	Weak transcription	HUVEC	blood vessel
32	chr7:137550600-137563400	Weak transcription	Brain Substantia Nigra	brain
33	chr7:137550800-137561200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:137550800-137562600	Weak transcription	Brain Anterior Caudate	brain
35	chr7:137551200-137569400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr7:137551400-137557400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr7:137551400-137557600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr7:137551400-137562600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr7:137551600-137560400	Weak transcription	K562	blood
40	chr7:137551600-137561400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:137551600-137562800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr7:137551800-137557000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr7:137552000-137558400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr7:137552000-137558400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:137552400-137557600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr7:137552400-137557600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:137552400-137558800	Weak transcription	Fetal Lung	lung
48	chr7:137552600-137557000	Weak transcription	Primary B cells from cord blood	blood
49	chr7:137552600-137557000	Weak transcription	Fetal Intestine Large	intestine
50	chr7:137552600-137558600	Weak transcription	Placenta Amnion	Placenta Amnion

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