Variant report

Variant	rs11121622
Chromosome Location	chr1:10849574-10849575
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	chr1:10842482..10848125-chr1:10848980..10851638,6	K562	blood:
2	chr1:10708228..10710600-chr1:10848696..10851530,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12728592	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12742748	1.00[AFR][1000 genomes]
rs34711287	1.00[AFR][1000 genomes]
rs34864652	1.00[AFR][1000 genomes]
rs71645008	1.00[AFR][1000 genomes]
rs74052507	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv29966	chr1:10676800-10874152	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv870849	chr1:10694125-10894724	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv529981	chr1:10697093-11353487	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
4	nsv832314	chr1:10704811-10859919	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv2757723	chr1:10742502-11055147	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv2758921	chr1:10742502-11055147	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv871772	chr1:10832322-10894724	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv870589	chr1:10840905-10901994	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10832600-10853400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:10838600-10852400	Enhancers	Fetal Heart	heart
3	chr1:10842600-10851400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:10843400-10849800	Weak transcription	Fetal Intestine Small	intestine
5	chr1:10844000-10850200	Enhancers	Right Ventricle	heart
6	chr1:10844400-10849600	Enhancers	Colon Smooth Muscle	Colon
7	chr1:10844600-10850800	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr1:10845000-10851800	Enhancers	Stomach Mucosa	stomach
9	chr1:10845200-10850400	Enhancers	Left Ventricle	heart
10	chr1:10845400-10850400	Enhancers	Psoas Muscle	Psoas
11	chr1:10848200-10850000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr1:10848200-10850200	Enhancers	Duodenum Mucosa	Duodenum
13	chr1:10848200-10851400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:10848600-10849600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:10848600-10849600	Bivalent Enhancer	Fetal Stomach	stomach
16	chr1:10848600-10849600	Enhancers	Right Atrium	heart
17	chr1:10848600-10850000	Weak transcription	Gastric	stomach
18	chr1:10848600-10852200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:10848800-10850200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:10848800-10850600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr1:10848800-10850800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:10848800-10851400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr1:10849000-10849800	Enhancers	Fetal Intestine Large	intestine
24	chr1:10849000-10850200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:10849000-10853400	Weak transcription	Pancreas	Pancrea
26	chr1:10849000-10853400	Weak transcription	Spleen	Spleen
27	chr1:10849200-10849600	Enhancers	Stomach Smooth Muscle	stomach
28	chr1:10849200-10851000	Bivalent Enhancer	Fetal Kidney	kidney
29	chr1:10849200-10851400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:10849200-10852000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:10849200-10853400	Weak transcription	Esophagus	oesophagus
32	chr1:10849200-10853400	Weak transcription	HMEC	breast
33	chr1:10849400-10849600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr1:10849400-10850000	Weak transcription	Colonic Mucosa	Colon
35	chr1:10849400-10851400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum

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