Variant report

Variant	rs60946090
Chromosome Location	chr12:57418858-57418859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57405046..57406844-chr12:57416916..57419634,2	K562	blood:
2	chr12:57401104..57405112-chr12:57417084..57419989,4	MCF-7	breast:
3	chr12:57417198..57419177-chr12:57437192..57440073,2	MCF-7	breast:
4	chr12:57390941..57393744-chr12:57417864..57420456,3	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11830013	1.00[AMR][1000 genomes]
rs74093907	1.00[AMR][1000 genomes]

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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57410200-57420800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:57410600-57420600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:57412000-57419800	Weak transcription	Fetal Intestine Large	intestine
4	chr12:57412600-57420400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:57413200-57420400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:57413400-57425000	Weak transcription	Spleen	Spleen
7	chr12:57415200-57419800	Weak transcription	Fetal Thymus	thymus
8	chr12:57415200-57420200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:57415200-57420400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:57415200-57421200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:57415400-57419800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr12:57416000-57419200	Enhancers	Stomach Smooth Muscle	stomach
13	chr12:57416000-57419800	Weak transcription	Primary T cells from cord blood	blood
14	chr12:57416000-57419800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:57416000-57419800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr12:57416000-57421800	Enhancers	Colon Smooth Muscle	Colon
17	chr12:57416600-57419800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:57416800-57419200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:57416800-57419400	Enhancers	Rectal Smooth Muscle	rectum
20	chr12:57416800-57439400	Strong transcription	Fetal Intestine Small	intestine
21	chr12:57417200-57441200	Weak transcription	Small Intestine	intestine
22	chr12:57417600-57419200	Weak transcription	Colonic Mucosa	Colon
23	chr12:57418000-57419800	Weak transcription	K562	blood
24	chr12:57418000-57420000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr12:57418000-57420200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:57418200-57419000	Weak transcription	Brain Germinal Matrix	brain
27	chr12:57418200-57420000	Weak transcription	Fetal Stomach	stomach
28	chr12:57418600-57420400	Weak transcription	Rectal Mucosa Donor 31	rectum

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