Variant report

Variant	rs7109601
Chromosome Location	chr11:73059983-73059984
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	chr11:73003361..73006325-chr11:73057848..73060843,2	K562	blood:
2	chr11:73056150..73059125-chr11:73059660..73062281,2	K562	blood:

Variant related genes	Relation type
ENSG00000171631	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs34304845	0.81[EUR][1000 genomes]
rs56187614	0.81[EUR][1000 genomes]
rs58658035	0.81[EUR][1000 genomes]
rs60436721	0.83[AFR][1000 genomes]
rs7102197	0.85[ASW][hapmap]
rs7120967	0.81[EUR][1000 genomes]
rs7123300	0.86[AFR][1000 genomes]
rs7342152	0.85[AFR][1000 genomes]
rs7924394	0.81[EUR][1000 genomes]
rs7932197	0.85[GIH][hapmap];1.00[TSI][hapmap]
rs7937210	0.88[AFR][1000 genomes]
rs7945984	0.85[GIH][hapmap];1.00[TSI][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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer 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	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73046600-73061600	Weak transcription	Primary B cells from cord blood	blood
2	chr11:73046600-73075400	Weak transcription	A549	lung
3	chr11:73053800-73064400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:73053800-73065800	Weak transcription	Fetal Kidney	kidney
5	chr11:73053800-73070000	Weak transcription	HUVEC	blood vessel
6	chr11:73054400-73066600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:73054600-73081800	Strong transcription	Fetal Intestine Small	intestine
8	chr11:73054800-73061800	Weak transcription	Pancreas	Pancrea
9	chr11:73054800-73062200	Weak transcription	Liver	Liver
10	chr11:73054800-73063800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:73054800-73072800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:73055000-73071000	Weak transcription	Esophagus	oesophagus
13	chr11:73055000-73072800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:73055000-73072800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:73055200-73063800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:73055800-73066800	Weak transcription	Colonic Mucosa	Colon
17	chr11:73055800-73068400	Weak transcription	NH-A	brain
18	chr11:73055800-73071800	Weak transcription	Brain Substantia Nigra	brain
19	chr11:73056000-73062000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:73056000-73072200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:73056000-73077200	Weak transcription	Right Atrium	heart
22	chr11:73056200-73060200	Strong transcription	NHLF	lung
23	chr11:73056200-73061800	Strong transcription	Fetal Stomach	stomach
24	chr11:73056200-73064200	Weak transcription	NHDF-Ad	bronchial
25	chr11:73056200-73066600	Weak transcription	Brain Angular Gyrus	brain
26	chr11:73056600-73062000	Weak transcription	Fetal Brain Male	brain
27	chr11:73056800-73061800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:73057000-73061000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:73057200-73061200	Strong transcription	Fetal Muscle Leg	muscle
30	chr11:73057400-73060600	Strong transcription	Fetal Muscle Trunk	muscle
31	chr11:73057400-73062000	Strong transcription	Fetal Intestine Large	intestine
32	chr11:73057800-73060400	Strong transcription	Brain Germinal Matrix	brain
33	chr11:73057800-73060800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:73057800-73060800	Strong transcription	Ovary	ovary
35	chr11:73057800-73061800	Weak transcription	Brain Hippocampus Middle	brain
36	chr11:73057800-73062000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:73058000-73060000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr11:73058000-73060200	Strong transcription	Left Ventricle	heart
39	chr11:73058000-73060600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr11:73058000-73062200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:73058000-73071200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr11:73058200-73060000	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr11:73058200-73060200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:73058200-73060200	Strong transcription	Gastric	stomach
45	chr11:73058200-73060200	Strong transcription	Rectal Smooth Muscle	rectum
46	chr11:73058200-73060400	Strong transcription	Lung	lung
47	chr11:73058200-73060800	Strong transcription	Stomach Smooth Muscle	stomach
48	chr11:73058200-73061600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:73058200-73061600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:73058200-73062000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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