Variant report

Variant	rs10841528
Chromosome Location	chr12:20597486-20597487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:20592531..20594654-chr12:20596756..20599330,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10841529	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11045256	0.90[MEX][hapmap]
rs11045257	0.90[MEX][hapmap]
rs11045259	0.86[AMR][1000 genomes]
rs11611895	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11611929	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12184495	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12815826	0.88[ASN][1000 genomes]
rs4130514	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7302508	0.86[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1042315	chr12:20531641-20629866	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20573800-20599800	Weak transcription	Left Ventricle	heart
2	chr12:20587600-20599000	Weak transcription	Right Atrium	heart
3	chr12:20588200-20618400	Weak transcription	Ovary	ovary
4	chr12:20589200-20597800	Weak transcription	Aorta	Aorta
5	chr12:20589400-20603000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:20590800-20597600	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:20592000-20597600	Weak transcription	Right Ventricle	heart
8	chr12:20592000-20597800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:20592000-20598600	Weak transcription	Fetal Stomach	stomach
10	chr12:20592000-20600400	Weak transcription	HUVEC	blood vessel
11	chr12:20592200-20597600	Weak transcription	Osteobl	bone
12	chr12:20592800-20603600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:20595600-20597600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:20595600-20598800	Weak transcription	Pancreas	Pancrea
15	chr12:20595600-20599000	Weak transcription	Gastric	stomach
16	chr12:20595600-20599000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:20596200-20597800	Enhancers	Fetal Intestine Large	intestine
18	chr12:20596200-20598200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr12:20596400-20598200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr12:20596400-20598200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr12:20596400-20599000	Enhancers	Colon Smooth Muscle	Colon
22	chr12:20596600-20597800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:20596600-20598000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:20596600-20598000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr12:20596600-20598800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr12:20596800-20598000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr12:20596800-20598000	Enhancers	Stomach Smooth Muscle	stomach
28	chr12:20596800-20598200	Enhancers	H9 Cell Line	embryonic stem cell
29	chr12:20596800-20598200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr12:20596800-20599200	Enhancers	Rectal Smooth Muscle	rectum
31	chr12:20596800-20599200	Enhancers	NHDF-Ad	bronchial
32	chr12:20596800-20599600	Genic enhancers	Hela-S3	cervix
33	chr12:20596800-20599800	Enhancers	Fetal Intestine Small	intestine
34	chr12:20596800-20600000	Enhancers	Fetal Heart	heart
35	chr12:20597000-20597600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr12:20597000-20598000	Enhancers	H1 Cell Line	embryonic stem cell

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