Variant report

Variant	rs11175174
Chromosome Location	chr12:64185394-64185395
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64172633..64174907-chr12:64183878..64187539,3	MCF-7	breast:
2	chr12:64172206..64174854-chr12:64184728..64186447,3	K562	blood:

Variant related genes	Relation type
ENSG00000118600	Chromatin interaction

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

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

rs_ID	r²[population]
rs11175172	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12228292	0.80[EUR][1000 genomes]
rs2279964	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3791156	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581507	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73313417	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs949955	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs949956	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv899171	chr12:63916682-64202233	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv3485882	chr12:64178755-64196017	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3485883	chr12:64178755-64196017	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3488108	chr12:64178778-64195988	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3488119	chr12:64178778-64195988	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64174400-64189200	Weak transcription	Pancreas	Pancrea
2	chr12:64174400-64200200	Weak transcription	Spleen	Spleen
3	chr12:64174400-64201800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:64174400-64203400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:64174400-64204400	Weak transcription	Small Intestine	intestine
6	chr12:64174400-64204800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:64174600-64186200	Weak transcription	Aorta	Aorta
8	chr12:64174600-64187800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:64174600-64199400	Weak transcription	Brain Substantia Nigra	brain
10	chr12:64174600-64200200	Weak transcription	HSMMtube	muscle
11	chr12:64174600-64200600	Weak transcription	Thymus	Thymus
12	chr12:64174600-64201000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:64174600-64204400	Weak transcription	Colonic Mucosa	Colon
14	chr12:64174800-64199200	Weak transcription	Stomach Mucosa	stomach
15	chr12:64174800-64208000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr12:64174800-64208000	Weak transcription	Fetal Brain Male	brain
17	chr12:64174800-64208600	Weak transcription	Fetal Brain Female	brain
18	chr12:64175000-64186000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:64175000-64186000	Weak transcription	Brain Germinal Matrix	brain
20	chr12:64175000-64189000	Weak transcription	Fetal Intestine Small	intestine
21	chr12:64175000-64200200	Weak transcription	Brain Anterior Caudate	brain
22	chr12:64175200-64185600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:64175200-64199400	Weak transcription	NHLF	lung
24	chr12:64175200-64202400	Weak transcription	Fetal Heart	heart
25	chr12:64175200-64205200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:64175400-64189400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:64175400-64200800	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:64175400-64201800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:64175400-64202600	Weak transcription	Hela-S3	cervix
30	chr12:64175400-64202800	Weak transcription	HUVEC	blood vessel
31	chr12:64175400-64204400	Weak transcription	Brain Angular Gyrus	brain
32	chr12:64175600-64186400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:64175600-64189800	Weak transcription	HepG2	liver
34	chr12:64175600-64208000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:64176200-64186600	Strong transcription	Dnd41	blood
36	chr12:64177600-64186200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:64178000-64209800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:64178400-64188600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr12:64178400-64204000	Weak transcription	HMEC	breast
40	chr12:64178600-64208400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr12:64178800-64187800	Weak transcription	Right Ventricle	heart
42	chr12:64178800-64189000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr12:64178800-64201600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:64179800-64186600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:64179800-64187000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:64180000-64186800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:64180200-64186400	Strong transcription	Liver	Liver
48	chr12:64180400-64185800	Strong transcription	A549	lung
49	chr12:64180400-64186600	Strong transcription	Primary T cells from cord blood	blood
50	chr12:64180600-64185600	Strong transcription	HUES6 Cell Line	embryonic stem cell

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