Variant report

Variant	rs12129466
Chromosome Location	chr1:176056251-176056252
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	chr1:176048905..176051359-chr1:176053995..176056465,2	K562	blood:

Variant related genes	Relation type
ENSG00000143207	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10494497	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12119366	0.88[AMR][1000 genomes]
rs12121832	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12123116	0.81[AMR][1000 genomes]
rs12125119	0.81[AMR][1000 genomes]
rs12125192	0.88[AMR][1000 genomes]
rs12125328	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12127204	0.88[AMR][1000 genomes]
rs12127719	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12128099	0.88[AMR][1000 genomes]
rs12128327	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12129873	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12130538	0.88[AMR][1000 genomes]
rs12132072	0.96[AMR][1000 genomes]
rs12133268	0.88[AMR][1000 genomes]
rs12133310	0.82[EUR][1000 genomes]
rs12133701	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12134392	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12134984	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12135045	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12137136	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12139160	0.88[AMR][1000 genomes]
rs12140631	0.88[AMR][1000 genomes]
rs12141054	0.88[AMR][1000 genomes]
rs12142010	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12142461	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12143425	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12144612	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12144692	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12144806	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12145452	0.88[AMR][1000 genomes]
rs12145703	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12145778	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12146072	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1330863	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16849475	0.88[AMR][1000 genomes]
rs28770189	0.81[AMR][1000 genomes]
rs4400573	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56230548	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7349083	0.88[AMR][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	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv872564	chr1:176027978-176102808	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv548246	chr1:176043797-176136273	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:175994200-176065200	Weak transcription	Psoas Muscle	Psoas
3	chr1:176007800-176066400	Weak transcription	Fetal Brain Male	brain
4	chr1:176010400-176066000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:176012400-176062800	Weak transcription	Lung	lung
6	chr1:176012400-176065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:176028200-176079200	Weak transcription	HSMMtube	muscle
8	chr1:176035000-176069800	Weak transcription	NHEK	skin
9	chr1:176035200-176067600	Weak transcription	Colonic Mucosa	Colon
10	chr1:176035400-176066400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:176035400-176067200	Weak transcription	HUVEC	blood vessel
12	chr1:176037200-176064600	Weak transcription	Gastric	stomach
13	chr1:176037200-176067200	Weak transcription	Small Intestine	intestine
14	chr1:176037200-176067400	Weak transcription	Osteobl	bone
15	chr1:176038600-176068800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:176038800-176059400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:176039200-176068800	Weak transcription	HMEC	breast
18	chr1:176039400-176058800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:176040600-176065400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:176042200-176056600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:176042800-176067200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:176043000-176065400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:176045200-176064600	Weak transcription	Fetal Stomach	stomach
24	chr1:176045800-176066000	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:176046600-176057000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:176046600-176082200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:176048400-176064400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:176048400-176067600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:176048600-176063000	Weak transcription	Fetal Lung	lung
30	chr1:176048600-176064800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:176048600-176065600	Weak transcription	A549	lung
32	chr1:176048600-176066400	Weak transcription	Fetal Kidney	kidney
33	chr1:176048800-176057200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:176048800-176062800	Weak transcription	Fetal Thymus	thymus
35	chr1:176048800-176064400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:176048800-176064600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:176048800-176065200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:176048800-176065200	Weak transcription	Brain Germinal Matrix	brain
39	chr1:176048800-176065400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:176048800-176066400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:176048800-176107000	Weak transcription	HepG2	liver
42	chr1:176049200-176056600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:176049200-176065200	Weak transcription	Left Ventricle	heart
44	chr1:176049200-176065400	Weak transcription	Thymus	Thymus
45	chr1:176049200-176067200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:176050000-176065200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:176050000-176066000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr1:176050200-176058200	Weak transcription	Primary T cells from cord blood	blood
49	chr1:176050200-176064400	Weak transcription	Fetal Intestine Large	intestine
50	chr1:176050200-176065800	Weak transcription	Rectal Mucosa Donor 29	rectum

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