Variant report

Variant	rs11975957
Chromosome Location	chr7:66133239-66133240
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66127237..66129875-chr7:66131480..66133745,3	K562	blood:
2	chr7:66118854..66122954-chr7:66127904..66133734,8	K562	blood:
3	chr7:66117974..66122051-chr7:66130047..66133734,5	K562	blood:

Variant related genes	Relation type
ENSG00000226824	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17138012	1.00[EUR][1000 genomes]
rs17138015	1.00[EUR][1000 genomes]
rs17138195	1.00[EUR][1000 genomes]
rs1882654	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58642961	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58807488	1.00[EUR][1000 genomes]
rs60019603	1.00[EUR][1000 genomes]
rs60319566	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6945895	1.00[EUR][1000 genomes]
rs6960788	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6964739	1.00[EUR][1000 genomes]
rs6964781	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7786451	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	esv2761151	chr7:66095738-66138285	Flanking Active TSS Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3496297	chr7:66099491-66136579	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv3496298	chr7:66099491-66136579	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv3486481	chr7:66101377-66137773	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv3486482	chr7:66101377-66137773	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	esv3509629	chr7:66101713-66137585	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv3509631	chr7:66101713-66137585	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv967445	chr7:66112743-66133589	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66120600-66146000	Weak transcription	Primary T cells from cord blood	blood
2	chr7:66120600-66146200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:66120800-66143600	Weak transcription	GM12878-XiMat	blood
4	chr7:66120800-66146000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:66121000-66139400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:66121000-66143600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr7:66121000-66144000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:66121000-66146200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:66121000-66146200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:66121200-66137800	Weak transcription	HMEC	breast
11	chr7:66121400-66139800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr7:66121400-66146000	Weak transcription	Adipose Nuclei	Adipose
13	chr7:66121400-66146000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:66121600-66133400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:66121600-66133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:66121600-66133400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:66121600-66133400	Weak transcription	NHEK	skin
18	chr7:66121600-66133400	Weak transcription	NHLF	lung
19	chr7:66121600-66137800	Weak transcription	NH-A	brain
20	chr7:66121600-66144000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr7:66121600-66145400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr7:66121600-66146200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:66121600-66146200	Weak transcription	HSMMtube	muscle
24	chr7:66121800-66134600	Weak transcription	Ovary	ovary
25	chr7:66121800-66144000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:66122200-66138200	Weak transcription	NHDF-Ad	bronchial
27	chr7:66122400-66133400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:66122400-66134400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:66122600-66146000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:66127800-66135800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr7:66127800-66136800	Weak transcription	Hela-S3	cervix
32	chr7:66127800-66146000	Weak transcription	A549	lung
33	chr7:66128000-66133400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:66128000-66133400	Weak transcription	Esophagus	oesophagus
35	chr7:66128000-66133400	Weak transcription	Gastric	stomach
36	chr7:66128000-66133400	Weak transcription	Dnd41	blood
37	chr7:66128000-66135800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:66128000-66136200	Weak transcription	K562	blood
39	chr7:66128000-66138400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:66128000-66144000	Weak transcription	Pancreas	Pancrea
41	chr7:66128000-66144000	Weak transcription	Spleen	Spleen
42	chr7:66128000-66145800	Weak transcription	Primary B cells from cord blood	blood
43	chr7:66128000-66146000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr7:66128000-66146000	Weak transcription	Fetal Lung	lung
45	chr7:66128000-66146000	Weak transcription	HSMM	muscle
46	chr7:66128000-66146200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:66128000-66146200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr7:66128000-66146400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr7:66128200-66133400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:66128200-66133600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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