Variant report

Variant	rs2066892
Chromosome Location	chr7:39716472-39716473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10486804	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12111908	0.92[EUR][1000 genomes]
rs17171611	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171613	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171617	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17713951	0.92[EUR][1000 genomes]
rs17714049	0.92[EUR][1000 genomes]
rs2237500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3213655	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3779202	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv887971	chr7:39662268-39745775	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv887972	chr7:39666267-39733688	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39672200-39722800	Weak transcription	Hela-S3	cervix
2	chr7:39680000-39721600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr7:39682800-39722000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:39683400-39716600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr7:39700000-39728200	Weak transcription	Liver	Liver
6	chr7:39701200-39718400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr7:39701800-39720800	Weak transcription	Lung	lung
8	chr7:39701800-39721200	Weak transcription	Thymus	Thymus
9	chr7:39701800-39722600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:39701800-39739400	Weak transcription	Esophagus	oesophagus
11	chr7:39702000-39716600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:39702000-39727400	Weak transcription	Fetal Intestine Large	intestine
13	chr7:39703800-39716600	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:39704200-39716600	Weak transcription	Psoas Muscle	Psoas
15	chr7:39704400-39717800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:39704800-39718600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr7:39706400-39722800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:39707200-39727200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:39707200-39730000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:39707400-39718400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:39707400-39718800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:39707400-39721000	Weak transcription	Right Ventricle	heart
23	chr7:39708000-39718000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:39708000-39718600	Weak transcription	Osteobl	bone
25	chr7:39708000-39720400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:39708000-39721400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr7:39708000-39722400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:39708200-39720400	Weak transcription	NHDF-Ad	bronchial
29	chr7:39710200-39716600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:39710200-39722600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:39710400-39721800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr7:39710800-39722800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:39712000-39722600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:39712200-39716600	Weak transcription	HSMM	muscle
35	chr7:39712200-39722600	Weak transcription	NHEK	skin
36	chr7:39712200-39722800	Weak transcription	HMEC	breast
37	chr7:39712600-39716600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:39712600-39716600	Weak transcription	HUVEC	blood vessel
39	chr7:39712800-39728400	Weak transcription	Pancreas	Pancrea
40	chr7:39714000-39736800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:39714400-39716600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:39714400-39716800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:39714400-39721400	Weak transcription	Brain Hippocampus Middle	brain
44	chr7:39714800-39716800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:39714800-39721200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:39714800-39723400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:39715000-39716800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr7:39715000-39721000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:39715000-39736600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr7:39715200-39718000	Weak transcription	Fetal Heart	heart

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