Variant report

Variant	rs193573
Chromosome Location	chr7:116838311-116838312
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:115847372-115857098..7:116834492-116839074	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10267855	0.90[EUR][1000 genomes]
rs10267869	0.90[EUR][1000 genomes]
rs10281328	0.90[EUR][1000 genomes]
rs10808186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12690963	0.91[EUR][1000 genomes]
rs193572	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs193574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193577	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs193578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193579	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs193580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs193584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193587	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs193588	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs193589	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs193590	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs193591	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs193592	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs193593	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs193594	0.88[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs193595	0.96[CEU][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];0.88[JPT][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3757807	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3808193	0.96[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3808194	0.92[EUR][1000 genomes]
rs3808195	0.96[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3808196	0.96[CEU][hapmap];0.90[GIH][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs6954357	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs7783832	0.87[EUR][1000 genomes]
rs7788285	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.88[JPT][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7802396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831108	chr7:116749534-116952011	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv5916	chr7:116825221-116870570	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116785200-116856600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:116798000-116850000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:116798200-116866600	Weak transcription	HMEC	breast
4	chr7:116798400-116849800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:116805200-116850000	Weak transcription	Psoas Muscle	Psoas
6	chr7:116807600-116857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:116808400-116871800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:116810200-116850000	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:116811600-116838400	Weak transcription	Pancreas	Pancrea
10	chr7:116812200-116850000	Weak transcription	Hela-S3	cervix
11	chr7:116815800-116839000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:116817600-116849000	Weak transcription	Fetal Lung	lung
13	chr7:116824200-116867200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:116825400-116859600	Weak transcription	Brain Anterior Caudate	brain
15	chr7:116827800-116859000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:116828800-116865400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:116829200-116840600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:116830400-116838600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:116830400-116849800	Weak transcription	Fetal Brain Male	brain
20	chr7:116830600-116853000	Weak transcription	NH-A	brain
21	chr7:116830800-116849800	Weak transcription	Brain Substantia Nigra	brain
22	chr7:116830800-116850200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr7:116830800-116859400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:116830800-116859600	Weak transcription	Gastric	stomach
25	chr7:116831000-116838400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:116831000-116838400	Weak transcription	Fetal Intestine Small	intestine
27	chr7:116831000-116838400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:116831000-116838400	Weak transcription	Lung	lung
29	chr7:116831000-116838400	Weak transcription	Right Ventricle	heart
30	chr7:116831000-116838800	Weak transcription	Small Intestine	intestine
31	chr7:116831000-116850200	Weak transcription	Esophagus	oesophagus
32	chr7:116831000-116870800	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:116831000-116870800	Weak transcription	Spleen	Spleen
34	chr7:116831200-116838400	Weak transcription	Adipose Nuclei	Adipose
35	chr7:116831200-116838400	Weak transcription	Fetal Stomach	stomach
36	chr7:116831200-116839600	Weak transcription	Ovary	ovary
37	chr7:116831200-116841400	Weak transcription	Brain Germinal Matrix	brain
38	chr7:116831200-116842400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:116831200-116842600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:116831200-116865200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr7:116831400-116838400	Weak transcription	Fetal Intestine Large	intestine
42	chr7:116831400-116850200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr7:116831400-116850400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr7:116831400-116858800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:116831400-116859000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr7:116831400-116860400	Weak transcription	HepG2	liver
47	chr7:116831400-116861200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:116831600-116842400	Weak transcription	NHEK	skin
49	chr7:116832000-116849600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:116834000-116849800	Weak transcription	HSMMtube	muscle

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