Variant report

Variant	rs193595
Chromosome Location	chr7:116864890-116864891
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	chr7:116864347..116866979-chr7:116868628..116871312,2	K562	blood:
2	chr7:116856634..116860393-chr7:116862526..116866419,4	MCF-7	breast:
3	7:116610596-116619447..7:116849860-116864942	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000213050	Chromatin interaction
ENSG00000004866	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10267855	0.96[EUR][1000 genomes]
rs10267869	0.96[EUR][1000 genomes]
rs10281328	0.96[EUR][1000 genomes]
rs10808186	0.96[CEU][hapmap];0.82[CHB][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12690963	0.97[EUR][1000 genomes]
rs193572	0.88[EUR][1000 genomes]
rs193573	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]
rs193574	0.96[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs193575	0.96[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs193576	0.96[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs193577	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs193578	0.96[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs193579	0.96[CEU][hapmap];0.90[GIH][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs193580	0.96[CEU][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];0.88[JPT][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs193581	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs193583	0.96[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap]
rs193584	0.96[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs193586	0.96[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs193587	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs193588	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs193589	0.96[CEU][hapmap];0.90[GIH][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs193590	0.96[CEU][hapmap];0.90[GIH][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs193591	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs193592	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs193593	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs193594	0.92[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3757807	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs3808193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808194	0.98[EUR][1000 genomes]
rs3808195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808196	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes]
rs6466603	0.83[EUR][1000 genomes]
rs6954357	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7783832	0.93[EUR][1000 genomes]
rs7788285	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802396	0.96[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116798200-116866600	Weak transcription	HMEC	breast
2	chr7:116808400-116871800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:116824200-116867200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr7:116828800-116865400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:116831000-116870800	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:116831000-116870800	Weak transcription	Spleen	Spleen
7	chr7:116831200-116865200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:116834400-116868800	Weak transcription	HSMM	muscle
9	chr7:116835000-116871400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:116839000-116868800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:116840000-116871800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:116842800-116865200	Weak transcription	NHEK	skin
13	chr7:116844000-116872600	Weak transcription	Right Ventricle	heart
14	chr7:116847800-116867000	Weak transcription	A549	lung
15	chr7:116849400-116872000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr7:116850800-116869200	Weak transcription	Psoas Muscle	Psoas
17	chr7:116851200-116866200	Weak transcription	Hela-S3	cervix
18	chr7:116853800-116870200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:116856800-116869600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:116858400-116870600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:116858800-116866000	Strong transcription	Fetal Intestine Small	intestine
22	chr7:116859000-116866800	Strong transcription	Brain Germinal Matrix	brain
23	chr7:116859200-116865000	Strong transcription	Stomach Smooth Muscle	stomach
24	chr7:116859800-116869000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:116859800-116869400	Weak transcription	Osteobl	bone
26	chr7:116859800-116871600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:116859800-116872200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:116859800-116873000	Weak transcription	Brain Substantia Nigra	brain
29	chr7:116859800-116878000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:116860000-116865400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr7:116860200-116869800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:116860400-116865600	Weak transcription	Fetal Heart	heart
33	chr7:116860400-116869200	Weak transcription	Fetal Brain Female	brain
34	chr7:116860400-116872800	Weak transcription	Brain Angular Gyrus	brain
35	chr7:116861000-116869400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:116861000-116869600	Weak transcription	Brain Anterior Caudate	brain
37	chr7:116861000-116872000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:116861200-116869200	Weak transcription	Pancreas	Pancrea
39	chr7:116861800-116867600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:116862200-116865000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:116862200-116868800	Weak transcription	NHLF	lung
42	chr7:116862200-116869800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:116862400-116869200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr7:116863200-116869600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:116863400-116865400	Weak transcription	Fetal Intestine Large	intestine
46	chr7:116863400-116869600	Weak transcription	Ovary	ovary
47	chr7:116863600-116865000	Weak transcription	GM12878-XiMat	blood
48	chr7:116863600-116865600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:116863600-116869200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:116863600-116869400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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