Variant report

Variant	rs2952223
Chromosome Location	chr8:10104092-10104093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11781781	0.85[TSI][hapmap]
rs2975696	0.83[CHB][hapmap]

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	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	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
7	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2952223	GATA4	cis	parietal	SCAN
rs2952223	AMAC1L2	cis	parietal	SCAN

Chromatin state (count:28 , 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	chr8:10103200-10109600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr8:10103200-10117800	Weak transcription	Pancreas	Pancrea
7	chr8:10103400-10105000	Weak transcription	Brain Germinal Matrix	brain
8	chr8:10103400-10105200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:10103400-10106400	Weak transcription	Esophagus	oesophagus
10	chr8:10103400-10107800	Weak transcription	Brain Angular Gyrus	brain
11	chr8:10103400-10108000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:10103400-10110000	Weak transcription	Lung	lung
13	chr8:10103400-10110000	Weak transcription	Psoas Muscle	Psoas
14	chr8:10103400-10111400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:10103400-10111600	Weak transcription	Left Ventricle	heart
16	chr8:10103400-10112000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:10103400-10115800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:10103600-10104600	Weak transcription	Fetal Brain Female	brain
19	chr8:10103600-10105200	Enhancers	HUVEC	blood vessel
20	chr8:10103600-10106400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:10103600-10110600	Weak transcription	Ovary	ovary
22	chr8:10103600-10111400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:10103600-10111600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr8:10103600-10115600	Weak transcription	Fetal Intestine Small	intestine
25	chr8:10103600-10118000	Weak transcription	Gastric	stomach
26	chr8:10103600-10122600	Weak transcription	Spleen	Spleen
27	chr8:10103800-10104800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:10104000-10124600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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