Variant report

Variant	rs6960384
Chromosome Location	chr7:112496556-112496557
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112488410..112491368-chr7:112494033..112497083,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17159929	1.00[EUR][1000 genomes]
rs60112566	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61617214	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6950471	1.00[EUR][1000 genomes]
rs73436469	1.00[EUR][1000 genomes]
rs73436475	1.00[EUR][1000 genomes]
rs73436488	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73436494	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73436497	1.00[EUR][1000 genomes]
rs73436499	1.00[EUR][1000 genomes]
rs73438310	1.00[EUR][1000 genomes]
rs73438320	1.00[EUR][1000 genomes]
rs73438322	1.00[EUR][1000 genomes]
rs7784144	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7799100	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7801228	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7808346	1.00[EUR][1000 genomes]
rs821784	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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	105 gene(s)	inside rSNPs	diseases
2	esv2752144	chr7:112398372-112499924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv2752145	chr7:112434049-112500049	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv1034863	chr7:112434413-112504160	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv5905	chr7:112445425-112521797	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	esv2754368	chr7:112483049-112588049	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112468600-112550000	Weak transcription	Aorta	Aorta
2	chr7:112469800-112529000	Weak transcription	Brain Anterior Caudate	brain
3	chr7:112470800-112498000	Weak transcription	Fetal Kidney	kidney
4	chr7:112470800-112502800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:112470800-112506800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:112470800-112533200	Weak transcription	HSMM	muscle
7	chr7:112471800-112502000	Weak transcription	Fetal Stomach	stomach
8	chr7:112471800-112511200	Weak transcription	HSMMtube	muscle
9	chr7:112471800-112545200	Weak transcription	Ovary	ovary
10	chr7:112472000-112497800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:112472000-112506400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:112472000-112524600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:112472200-112513200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:112472200-112517800	Weak transcription	Osteobl	bone
15	chr7:112472600-112503200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:112472600-112533200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:112472800-112505400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:112478400-112506400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:112486200-112506400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:112487200-112503000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:112488200-112497800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr7:112488600-112499600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:112490000-112497800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:112490000-112504000	Weak transcription	Fetal Thymus	thymus
25	chr7:112490800-112533000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:112491200-112508600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:112492200-112506400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:112492600-112497800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:112492600-112501600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr7:112492600-112501600	Weak transcription	Primary B cells from cord blood	blood
31	chr7:112492600-112502800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:112492600-112505000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr7:112492600-112508800	Weak transcription	Dnd41	blood
34	chr7:112493000-112504600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:112493800-112499600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr7:112493800-112507800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr7:112493800-112509200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:112494200-112503000	Weak transcription	Primary T cells from cord blood	blood
39	chr7:112494200-112508600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:112494200-112532400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr7:112494400-112506600	Weak transcription	Adipose Nuclei	Adipose
42	chr7:112494400-112506600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr7:112494400-112508800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:112494600-112503000	Weak transcription	Fetal Lung	lung
45	chr7:112494800-112499000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:112495000-112497600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:112495600-112502000	Weak transcription	Fetal Intestine Small	intestine
48	chr7:112495600-112502800	Weak transcription	Fetal Muscle Leg	muscle
49	chr7:112495600-112508400	Weak transcription	Right Ventricle	heart
50	chr7:112495600-112515000	Weak transcription	Pancreas	Pancrea

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