Variant report

Variant	rs7944146
Chromosome Location	chr11:16927022-16927023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16924323..16927618-chr11:16930447..16932852,3	K562	blood:
2	chr11:16924785..16927963-chr11:16940444..16943241,3	MCF-7	breast:
3	chr11:16924323..16927213-chr11:16930206..16932852,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11024083	1.00[JPT][hapmap]
rs11824348	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12418493	1.00[JPT][hapmap]
rs12708338	0.89[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12785711	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12787236	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12793275	0.88[ASN][1000 genomes]
rs12795133	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12802357	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12806040	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34441025	0.88[ASN][1000 genomes]
rs34670733	1.00[ASN][1000 genomes]
rs34760218	1.00[ASN][1000 genomes]
rs35677666	1.00[ASN][1000 genomes]
rs35865759	0.88[ASN][1000 genomes]
rs6486322	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486323	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486324	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486325	1.00[JPT][hapmap]
rs7123174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs71484734	0.81[ASN][1000 genomes]
rs71484736	1.00[ASN][1000 genomes]
rs7394448	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7394466	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7394865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7395923	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7396550	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926072	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7931313	0.88[ASN][1000 genomes]
rs7933299	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs7943517	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947201	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv7688	chr11:16912759-16939804	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2757425	chr11:16915291-16934130	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759805	chr11:16915291-16934130	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1038987	chr11:16916438-16927022	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2754709	chr11:16917219-16927022	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16914000-16927400	Weak transcription	HSMMtube	muscle
2	chr11:16916000-16931000	Weak transcription	Spleen	Spleen
3	chr11:16919800-16933600	Weak transcription	Fetal Kidney	kidney
4	chr11:16921600-16927200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:16922000-16934000	Weak transcription	HepG2	liver
6	chr11:16922200-16927200	Weak transcription	Fetal Lung	lung
7	chr11:16923400-16927400	Enhancers	Fetal Intestine Large	intestine
8	chr11:16923800-16927800	Enhancers	Fetal Heart	heart
9	chr11:16924200-16927200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:16924800-16927400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:16925000-16927200	Weak transcription	Esophagus	oesophagus
12	chr11:16925000-16927200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:16925000-16927400	Weak transcription	Adipose Nuclei	Adipose
14	chr11:16925200-16939800	Weak transcription	Colonic Mucosa	Colon
15	chr11:16925600-16939800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:16925800-16927200	Weak transcription	Small Intestine	intestine
17	chr11:16925800-16927400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:16926400-16927400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:16926600-16927400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:16926600-16927400	Enhancers	HMEC	breast
21	chr11:16926600-16927600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr11:16926600-16927600	Enhancers	Gastric	stomach
23	chr11:16926600-16927600	Enhancers	Left Ventricle	heart
24	chr11:16926600-16927800	Genic enhancers	Fetal Intestine Small	intestine
25	chr11:16926600-16927800	Enhancers	Pancreas	Pancrea
26	chr11:16927000-16927200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:16927000-16927200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:16927000-16927200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr11:16927000-16927400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:16927000-16927600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:16927000-16927600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr11:16927000-16927600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr11:16927000-16927600	Enhancers	Brain Hippocampus Middle	brain
34	chr11:16927000-16927600	Enhancers	Fetal Muscle Trunk	muscle
35	chr11:16927000-16927600	Enhancers	Ovary	ovary
36	chr11:16927000-16927600	Enhancers	Right Atrium	heart
37	chr11:16927000-16927600	Enhancers	Right Ventricle	heart
38	chr11:16927000-16927600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr11:16927000-16927600	Flanking Active TSS	GM12878-XiMat	blood
40	chr11:16927000-16927800	Enhancers	Duodenum Mucosa	Duodenum
41	chr11:16927000-16927800	Enhancers	Fetal Muscle Leg	muscle
42	chr11:16927000-16927800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr11:16927000-16927800	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr11:16927000-16927800	Enhancers	Stomach Mucosa	stomach
45	chr11:16927000-16927800	Enhancers	A549	lung

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