Variant report

Variant	rs712715
Chromosome Location	chr7:127333136-127333137
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	chr7:127228140..127230167-chr7:127331408..127333962,2	K562	blood:

Variant related genes	Relation type
ENSG00000004059	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10954164	0.81[ASN][1000 genomes]
rs11772303	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12540484	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12667197	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12668077	0.83[ASN][1000 genomes]
rs12673293	0.81[ASN][1000 genomes]
rs1419967	0.83[ASN][1000 genomes]
rs17151229	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17151377	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2058457	0.81[ASN][1000 genomes]
rs2402871	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3757778	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3757780	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3808088	0.82[ASN][1000 genomes]
rs3824003	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4728079	0.83[ASN][1000 genomes]
rs4731377	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56185520	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58106688	0.83[ASN][1000 genomes]
rs59140894	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62481385	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62481416	0.83[ASN][1000 genomes]
rs62481419	0.83[ASN][1000 genomes]
rs62481443	0.82[ASN][1000 genomes]
rs67338333	0.81[ASN][1000 genomes]
rs698408	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs712707	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs712718	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs712719	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs765971	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs806166	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs806169	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs806172	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs806174	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs806180	0.83[ASN][1000 genomes]
rs806188	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs882694	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127299000-127334400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:127308800-127333600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:127309400-127333600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:127309600-127339600	Weak transcription	Brain Germinal Matrix	brain
5	chr7:127318200-127333800	Weak transcription	Brain Angular Gyrus	brain
6	chr7:127324200-127333800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:127324200-127338200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:127324400-127349000	Strong transcription	K562	blood
9	chr7:127324600-127334800	Weak transcription	Psoas Muscle	Psoas
10	chr7:127324800-127338400	Weak transcription	Small Intestine	intestine
11	chr7:127324800-127344200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:127324800-127349400	Weak transcription	Stomach Mucosa	stomach
13	chr7:127324800-127350800	Weak transcription	Fetal Brain Female	brain
14	chr7:127324800-127372200	Weak transcription	Fetal Heart	heart
15	chr7:127325000-127346400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:127325200-127334600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:127325600-127347200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:127325600-127363000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr7:127325800-127334600	Weak transcription	Colonic Mucosa	Colon
20	chr7:127325800-127350200	Strong transcription	HepG2	liver
21	chr7:127326000-127352200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr7:127326000-127354400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:127326000-127355600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr7:127326200-127338400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:127326200-127350600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:127326400-127336000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:127326400-127336000	Strong transcription	Fetal Muscle Leg	muscle
28	chr7:127326400-127347000	Strong transcription	Osteobl	bone
29	chr7:127326400-127347200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:127326400-127349200	Strong transcription	Dnd41	blood
31	chr7:127326400-127350200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:127326400-127350800	Strong transcription	Primary B cells from cord blood	blood
33	chr7:127326400-127350800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr7:127326400-127351000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:127326400-127351800	Strong transcription	Placenta	Placenta
36	chr7:127326400-127352800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:127326400-127356600	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr7:127326600-127342600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:127326600-127346400	Strong transcription	HSMM	muscle
40	chr7:127326600-127347200	Strong transcription	NH-A	brain
41	chr7:127326600-127351000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:127326600-127355200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:127326600-127379800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr7:127326800-127333800	Weak transcription	Pancreas	Pancrea
45	chr7:127326800-127334600	Weak transcription	Gastric	stomach
46	chr7:127326800-127371000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:127327000-127335000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr7:127327000-127355200	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:127328400-127333600	Weak transcription	Brain Substantia Nigra	brain
50	chr7:127328400-127334800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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