Variant report

Variant	rs12065257
Chromosome Location	chr1:150991284-150991285
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150981455..150983585-chr1:150990111..150992400,2	MCF-7	breast:
2	chr1:150989280..150991342-chr1:150992669..150995585,2	K562	blood:
3	chr1:150989805..150991764-chr1:151022449..151024450,2	K562	blood:
4	chr1:150989280..150991342-chr1:150992669..150996078,3	K562	blood:
5	chr1:150984595..150987305-chr1:150988636..150991774,4	K562	blood:

Variant related genes	Relation type
ENSG00000200759	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11204761	1.00[AFR][1000 genomes]
rs12094892	1.00[AFR][1000 genomes]
rs3002292	1.00[AFR][1000 genomes]
rs60565274	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150981800-150997000	Weak transcription	Aorta	Aorta
2	chr1:150981800-151006400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:150982000-150996800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:150982000-150997000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:150982000-150997000	Weak transcription	Esophagus	oesophagus
6	chr1:150982000-150997000	Weak transcription	Psoas Muscle	Psoas
7	chr1:150982000-150998000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:150982000-150999600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:150982000-151009000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:150982200-150995200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:150982200-150997200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:150982200-150997200	Weak transcription	HUVEC	blood vessel
13	chr1:150982200-150999400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:150982200-150999800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:150982200-151002800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:150982400-150992800	Weak transcription	NHDF-Ad	bronchial
17	chr1:150982400-150995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:150983200-150997200	Weak transcription	Thymus	Thymus
19	chr1:150984000-150997000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:150984000-150999800	Weak transcription	Hela-S3	cervix
21	chr1:150984200-150995200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:150984200-150997000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:150984200-150997000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:150984200-150997000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:150984200-150998800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:150984200-150999600	Weak transcription	NHEK	skin
27	chr1:150984200-151006400	Weak transcription	HMEC	breast
28	chr1:150984800-150995400	Weak transcription	HSMMtube	muscle
29	chr1:150985000-150994200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr1:150986000-150997000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:150986000-151000800	Weak transcription	A549	lung
32	chr1:150986000-151003200	Weak transcription	Fetal Brain Male	brain
33	chr1:150986200-150995400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:150986200-150995400	Weak transcription	NH-A	brain
35	chr1:150986200-150997000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:150986200-150997000	Weak transcription	Brain Substantia Nigra	brain
37	chr1:150986200-150997000	Weak transcription	Right Ventricle	heart
38	chr1:150986200-150998600	Weak transcription	Small Intestine	intestine
39	chr1:150986200-150998800	Weak transcription	Gastric	stomach
40	chr1:150986200-150999200	Weak transcription	NHLF	lung
41	chr1:150986200-150999600	Weak transcription	Spleen	Spleen
42	chr1:150986200-151006200	Weak transcription	Pancreas	Pancrea
43	chr1:150986400-150996800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:150986400-150997000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:150986400-150997000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr1:150986800-150994400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:150986800-150999400	Weak transcription	Colonic Mucosa	Colon
48	chr1:150987000-150996800	Weak transcription	Stomach Mucosa	stomach
49	chr1:150987000-150999200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:150987000-150999400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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