Variant report

Variant	rs12667204
Chromosome Location	chr7:66772408-66772409
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	chr7:66766528..66769516-chr7:66770098..66773304,3	K562	blood:

Variant related genes	Relation type
ENSG00000067601	Chromatin interaction
ENSG00000106610	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12669266	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2901419	0.81[EUR][1000 genomes]
rs3873638	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4718503	0.82[EUR][1000 genomes]
rs4718522	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4718523	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59827735	0.82[EUR][1000 genomes]
rs60514639	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv888330	chr7:66502171-66877880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv1032237	chr7:66644492-66785029	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1027702	chr7:66722103-66841913	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1031048	chr7:66722103-66844039	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv970872	chr7:66742783-66776118	Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers 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	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66767800-66780800	Weak transcription	Fetal Brain Male	brain
2	chr7:66768000-66773600	Weak transcription	Stomach Mucosa	stomach
3	chr7:66768200-66774000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:66768400-66772600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:66768400-66772600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr7:66768400-66772600	Weak transcription	Aorta	Aorta
7	chr7:66768400-66772600	Weak transcription	Brain Angular Gyrus	brain
8	chr7:66768400-66772600	Weak transcription	Colonic Mucosa	Colon
9	chr7:66768400-66772600	Weak transcription	Fetal Lung	lung
10	chr7:66768400-66772600	Weak transcription	Gastric	stomach
11	chr7:66768400-66773200	Weak transcription	Fetal Brain Female	brain
12	chr7:66768400-66773200	Weak transcription	NHDF-Ad	bronchial
13	chr7:66768400-66773200	Weak transcription	Osteobl	bone
14	chr7:66768400-66773400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:66768400-66773400	Weak transcription	Ovary	ovary
16	chr7:66768400-66773400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:66768400-66773600	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:66768400-66773800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:66768400-66774000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:66768400-66774000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:66768400-66774600	Weak transcription	Small Intestine	intestine
22	chr7:66768400-66776600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:66768600-66772600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:66768600-66773400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:66768600-66774000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:66768600-66782400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:66768800-66773200	Weak transcription	Psoas Muscle	Psoas
28	chr7:66768800-66773200	Weak transcription	HSMMtube	muscle
29	chr7:66768800-66775200	Strong transcription	Fetal Intestine Small	intestine
30	chr7:66768800-66783200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr7:66768800-66783400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:66769000-66772600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:66769000-66773000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:66769000-66773200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:66769000-66773400	Weak transcription	HUVEC	blood vessel
36	chr7:66769000-66773400	Weak transcription	NH-A	brain
37	chr7:66769000-66773600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:66769000-66774800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:66769000-66781200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:66769000-66785400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:66769200-66772600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:66769200-66772600	Weak transcription	Right Ventricle	heart
43	chr7:66769200-66772600	Weak transcription	HMEC	breast
44	chr7:66769200-66773000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr7:66769200-66773600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:66769200-66775200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:66769200-66776800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:66769400-66782800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:66769400-66783400	Strong transcription	Primary T cells from cord blood	blood
50	chr7:66769400-66785000	Strong transcription	Fetal Stomach	stomach

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