Variant report

Variant	rs3808194
Chromosome Location	chr7:116868585-116868586
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116865370..116869396-chr7:116871341..116874775,5	K562	blood:

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

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

rs_ID	r²[population]
rs10267855	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10267869	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10281328	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808186	0.92[EUR][1000 genomes]
rs12690963	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193572	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs193573	0.92[EUR][1000 genomes]
rs193574	0.92[EUR][1000 genomes]
rs193575	0.92[EUR][1000 genomes]
rs193576	0.92[EUR][1000 genomes]
rs193577	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs193578	0.92[EUR][1000 genomes]
rs193579	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs193580	0.92[EUR][1000 genomes]
rs193581	0.92[EUR][1000 genomes]
rs193584	0.92[EUR][1000 genomes]
rs193586	0.93[EUR][1000 genomes]
rs193587	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs193588	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs193589	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs193590	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs193591	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs193592	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs193593	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs193594	0.88[EUR][1000 genomes]
rs193595	0.98[EUR][1000 genomes]
rs3757807	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3808193	0.98[EUR][1000 genomes]
rs3808195	0.98[EUR][1000 genomes]
rs3808196	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466603	0.82[EUR][1000 genomes]
rs6954357	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783832	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7788285	0.98[EUR][1000 genomes]
rs7802396	0.92[EUR][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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116808400-116871800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:116831000-116870800	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:116831000-116870800	Weak transcription	Spleen	Spleen
4	chr7:116834400-116868800	Weak transcription	HSMM	muscle
5	chr7:116835000-116871400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:116839000-116868800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:116840000-116871800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:116844000-116872600	Weak transcription	Right Ventricle	heart
9	chr7:116849400-116872000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr7:116850800-116869200	Weak transcription	Psoas Muscle	Psoas
11	chr7:116853800-116870200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:116856800-116869600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:116858400-116870600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:116859800-116869000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:116859800-116869400	Weak transcription	Osteobl	bone
16	chr7:116859800-116871600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:116859800-116872200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:116859800-116873000	Weak transcription	Brain Substantia Nigra	brain
19	chr7:116859800-116878000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:116860200-116869800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:116860400-116869200	Weak transcription	Fetal Brain Female	brain
22	chr7:116860400-116872800	Weak transcription	Brain Angular Gyrus	brain
23	chr7:116861000-116869400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:116861000-116869600	Weak transcription	Brain Anterior Caudate	brain
25	chr7:116861000-116872000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:116861200-116869200	Weak transcription	Pancreas	Pancrea
27	chr7:116862200-116868800	Weak transcription	NHLF	lung
28	chr7:116862200-116869800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:116862400-116869200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr7:116863200-116869600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:116863400-116869600	Weak transcription	Ovary	ovary
32	chr7:116863600-116869200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:116863600-116869400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:116863600-116869600	Weak transcription	K562	blood
35	chr7:116863600-116869800	Weak transcription	Liver	Liver
36	chr7:116863600-116870200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:116863600-116871800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:116863600-116872200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr7:116863800-116869200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr7:116863800-116869400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:116863800-116869400	Weak transcription	Placenta	Placenta
42	chr7:116863800-116869400	Weak transcription	Left Ventricle	heart
43	chr7:116863800-116869800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:116863800-116870200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:116863800-116870800	Weak transcription	Esophagus	oesophagus
46	chr7:116863800-116870800	Weak transcription	Gastric	stomach
47	chr7:116863800-116871200	Weak transcription	Adipose Nuclei	Adipose
48	chr7:116863800-116871400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr7:116863800-116872000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr7:116863800-116872000	Weak transcription	Brain Hippocampus Middle	brain

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