Variant report

Variant	rs2952224
Chromosome Location	chr8:10103435-10103436
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2004677	1.00[JPT][hapmap]
rs2004679	1.00[JPT][hapmap]
rs2952181	1.00[EUR][1000 genomes]
rs2952221	0.81[ASW][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2952243	1.00[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2952244	1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[EUR][1000 genomes]
rs2975689	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2975704	1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2975705	1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2975723	0.91[ASW][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4288377	1.00[JPT][hapmap]
rs4541928	1.00[JPT][hapmap];0.86[YRI][hapmap]
rs4840467	0.86[YRI][hapmap]
rs6992272	0.86[YRI][hapmap]
rs7000550	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1026335	chr8:10037279-10139782	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv890346	chr8:10075373-10103435	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1028650	chr8:10101815-10178537	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10095400-10111600	Weak transcription	Primary T cells from cord blood	blood
2	chr8:10096000-10128000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:10096200-10107200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr8:10102400-10105000	Weak transcription	Fetal Brain Male	brain
5	chr8:10102800-10103600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr8:10102800-10103600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:10102800-10103600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:10102800-10103800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
9	chr8:10103000-10103600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:10103000-10103600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:10103000-10103600	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr8:10103000-10103600	ZNF genes & repeats	Gastric	stomach
13	chr8:10103000-10103600	ZNF genes & repeats	Ovary	ovary
14	chr8:10103000-10103600	ZNF genes & repeats	Spleen	Spleen
15	chr8:10103200-10103600	Strong transcription	Fetal Brain Female	brain
16	chr8:10103200-10103600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr8:10103200-10104000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:10103200-10109600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:10103200-10117800	Weak transcription	Pancreas	Pancrea
20	chr8:10103400-10105000	Weak transcription	Brain Germinal Matrix	brain
21	chr8:10103400-10105200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:10103400-10106400	Weak transcription	Esophagus	oesophagus
23	chr8:10103400-10107800	Weak transcription	Brain Angular Gyrus	brain
24	chr8:10103400-10108000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr8:10103400-10110000	Weak transcription	Lung	lung
26	chr8:10103400-10110000	Weak transcription	Psoas Muscle	Psoas
27	chr8:10103400-10111400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:10103400-10111600	Weak transcription	Left Ventricle	heart
29	chr8:10103400-10112000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:10103400-10115800	Weak transcription	Duodenum Mucosa	Duodenum

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