Variant report

Variant	rs74421976
Chromosome Location	chr8:52731720-52731721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:38812677..38813259-chr8:52731146..52731951,2	MCF-7	breast:
2	chr16:33940388..33941168-chr8:52731029..52731940,3	MCF-7	breast:
3	chr16:33939878..33940836-chr8:52730956..52731844,2	MCF-7	breast:
4	chr11:38812523..38813144-chr8:52731415..52731945,3	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv824632	chr8:52730903-52732936	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
7	nsv967589	chr8:52731031-52735145	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52714400-52731800	Weak transcription	Thymus	Thymus
2	chr8:52717600-52735200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:52717600-52741800	Weak transcription	Aorta	Aorta
4	chr8:52717800-52733000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:52717800-52734600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:52718000-52734800	Weak transcription	Dnd41	blood
7	chr8:52719400-52741800	Weak transcription	Esophagus	oesophagus
8	chr8:52719800-52733000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:52719800-52734000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr8:52719800-52734600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:52720000-52735000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:52720200-52733000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:52720400-52733000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr8:52720800-52735000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:52720800-52737000	Weak transcription	Brain Anterior Caudate	brain
16	chr8:52721000-52741000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:52721200-52733400	Weak transcription	Fetal Thymus	thymus
18	chr8:52722000-52771400	Weak transcription	Gastric	stomach
19	chr8:52722200-52733600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:52722200-52733600	Weak transcription	Left Ventricle	heart
21	chr8:52722200-52734800	Weak transcription	Lung	lung
22	chr8:52722200-52752000	Weak transcription	Pancreas	Pancrea
23	chr8:52722400-52733400	Weak transcription	Liver	Liver
24	chr8:52722400-52733400	Weak transcription	Ovary	ovary
25	chr8:52722400-52735000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:52722400-52741800	Weak transcription	Right Ventricle	heart
27	chr8:52722600-52733200	Weak transcription	Primary T cells from cord blood	blood
28	chr8:52722600-52734600	Weak transcription	Fetal Kidney	kidney
29	chr8:52722600-52735000	Weak transcription	HSMM	muscle
30	chr8:52722800-52731800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:52722800-52733200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:52722800-52733400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:52722800-52733600	Weak transcription	Fetal Stomach	stomach
34	chr8:52722800-52733600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr8:52722800-52735200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr8:52722800-52735200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:52722800-52741000	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:52722800-52741800	Weak transcription	HSMMtube	muscle
39	chr8:52723000-52741600	Weak transcription	Fetal Heart	heart
40	chr8:52726000-52735000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:52726000-52741800	Weak transcription	Brain Substantia Nigra	brain
42	chr8:52726800-52734600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:52727000-52733000	Weak transcription	Fetal Intestine Large	intestine
44	chr8:52727400-52733000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr8:52727600-52756800	Weak transcription	Brain Angular Gyrus	brain
46	chr8:52728000-52733000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:52728000-52734400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr8:52728200-52759200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr8:52728400-52734400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr8:52729400-52733000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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