Variant report

Variant	rs7792940
Chromosome Location	chr7:39718487-39718488
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39716806..39718805-chr7:39760155..39761984,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10253933	0.83[ASN][1000 genomes]
rs10267545	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs10486803	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10486805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12668144	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12669963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12701754	0.96[ASN][1000 genomes]
rs12701755	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12701756	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12701757	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13247563	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17417049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17417084	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34063025	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35774126	1.00[ASN][1000 genomes]
rs35943406	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3779200	1.00[CHB][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs6462940	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968684	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976944	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977082	1.00[CHB][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs7778955	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7779169	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7797693	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9648483	0.98[AFR][1000 genomes];0.98[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:81 , 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	chr7:39700000-39728200	Weak transcription	Liver	Liver
5	chr7:39701800-39720800	Weak transcription	Lung	lung
6	chr7:39701800-39721200	Weak transcription	Thymus	Thymus
7	chr7:39701800-39722600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:39701800-39739400	Weak transcription	Esophagus	oesophagus
9	chr7:39702000-39727400	Weak transcription	Fetal Intestine Large	intestine
10	chr7:39704800-39718600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:39706400-39722800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:39707200-39727200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:39707200-39730000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:39707400-39718800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:39707400-39721000	Weak transcription	Right Ventricle	heart
16	chr7:39708000-39718600	Weak transcription	Osteobl	bone
17	chr7:39708000-39720400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:39708000-39721400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr7:39708000-39722400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:39708200-39720400	Weak transcription	NHDF-Ad	bronchial
21	chr7:39710200-39722600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:39710400-39721800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr7:39710800-39722800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:39712000-39722600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:39712200-39722600	Weak transcription	NHEK	skin
26	chr7:39712200-39722800	Weak transcription	HMEC	breast
27	chr7:39712800-39728400	Weak transcription	Pancreas	Pancrea
28	chr7:39714000-39736800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:39714400-39721400	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:39714800-39721200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:39714800-39723400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:39715000-39721000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr7:39715000-39736600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr7:39715200-39718800	Weak transcription	Fetal Brain Male	brain
35	chr7:39715200-39721000	Weak transcription	Right Atrium	heart
36	chr7:39715200-39725000	Weak transcription	Primary T cells from cord blood	blood
37	chr7:39715200-39749400	Weak transcription	Aorta	Aorta
38	chr7:39716000-39722600	Weak transcription	Fetal Stomach	stomach
39	chr7:39716600-39721000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:39716600-39721200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:39716800-39718600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:39716800-39718600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:39716800-39719200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr7:39716800-39720200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr7:39716800-39720400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:39716800-39720600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr7:39716800-39720600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:39716800-39720600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr7:39716800-39720600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:39716800-39721000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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