Variant report

Variant	rs4529965
Chromosome Location	chr12:12658282-12658283
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	chr12:12657878..12659784-chr12:12714344..12718404,3	K562	blood:

Variant related genes	Relation type
ENSG00000111266	Chromatin interaction

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

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

rs_ID	r²[population]
rs11833012	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17312912	1.00[ASN][1000 genomes]
rs17377986	1.00[ASN][1000 genomes]
rs4763288	1.00[ASN][1000 genomes]
rs4763289	1.00[ASN][1000 genomes]
rs56015540	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73063421	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73063424	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73063430	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73063437	0.82[AMR][1000 genomes];0.94[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	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers 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	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv898811	chr12:12655443-12928295	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12630600-12661200	Weak transcription	NHEK	skin
2	chr12:12630800-12658400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:12630800-12659600	Weak transcription	Esophagus	oesophagus
4	chr12:12630800-12681000	Weak transcription	Colonic Mucosa	Colon
5	chr12:12633000-12658600	Weak transcription	Fetal Kidney	kidney
6	chr12:12634400-12685200	Weak transcription	Hela-S3	cervix
7	chr12:12634800-12658800	Weak transcription	HSMMtube	muscle
8	chr12:12639400-12679600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:12639600-12659000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:12640400-12659200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:12641600-12658800	Weak transcription	HUVEC	blood vessel
12	chr12:12641600-12663600	Weak transcription	Lung	lung
13	chr12:12641600-12686200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:12646800-12659200	Weak transcription	Gastric	stomach
15	chr12:12647000-12661400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:12647800-12658400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:12647800-12659200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr12:12650400-12658600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:12652400-12659000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:12652600-12658600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:12652800-12665000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:12653200-12658400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:12653400-12658400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:12653400-12659000	Enhancers	Brain Substantia Nigra	brain
25	chr12:12653800-12659000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:12653800-12669000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:12654000-12661200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:12654200-12660400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr12:12654400-12659000	Enhancers	Primary T cells fromperipheralblood	blood
30	chr12:12654400-12667200	Weak transcription	Primary T cells from cord blood	blood
31	chr12:12655800-12658400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr12:12656000-12658600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr12:12656000-12666400	Weak transcription	Spleen	Spleen
34	chr12:12656600-12660600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:12656800-12658400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr12:12656800-12659000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr12:12656800-12659200	Weak transcription	Colon Smooth Muscle	Colon
38	chr12:12656800-12670800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:12657000-12658800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:12657000-12658800	Enhancers	Psoas Muscle	Psoas
41	chr12:12657200-12658400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:12657200-12658400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr12:12657200-12658400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:12657200-12658800	Enhancers	Right Atrium	heart
45	chr12:12657200-12659000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr12:12657200-12659000	Weak transcription	A549	lung
47	chr12:12657200-12659600	Enhancers	HepG2	liver
48	chr12:12657400-12659000	Enhancers	Brain Angular Gyrus	brain
49	chr12:12657400-12659000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr12:12657400-12659800	Enhancers	Stomach Mucosa	stomach

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