Variant report

Variant	rs12064975
Chromosome Location	chr1:9822331-9822332
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	chr1:9821662..9824159-chr1:9828181..9830598,2	K562	blood:
2	chr1:9815045..9817854-chr1:9822064..9824472,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10779730	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10779731	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10864437	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10864438	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11121484	0.87[AMR][1000 genomes]
rs11121485	0.86[EUR][1000 genomes]
rs11121486	0.86[EUR][1000 genomes]
rs11121488	0.86[EUR][1000 genomes]
rs11121489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11121490	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11674	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11804356	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11806520	0.90[ASN][1000 genomes]
rs12021914	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12042293	0.86[EUR][1000 genomes]
rs12047054	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12088273	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1220419	0.82[ASN][1000 genomes]
rs12568720	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12569008	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1615629	0.90[ASN][1000 genomes]
rs1660741	0.90[ASN][1000 genomes]
rs1660742	0.90[ASN][1000 genomes]
rs4512653	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845975	0.82[ASN][1000 genomes]
rs56109009	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72855716	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7526958	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7550246	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9801200-9837800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:9801400-9854200	Weak transcription	Fetal Kidney	kidney
3	chr1:9804400-9836600	Weak transcription	Small Intestine	intestine
4	chr1:9804600-9836600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:9806400-9825800	Weak transcription	HSMMtube	muscle
6	chr1:9810000-9832400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:9810200-9825800	Weak transcription	NHDF-Ad	bronchial
8	chr1:9810200-9826000	Weak transcription	Hela-S3	cervix
9	chr1:9810200-9826000	Weak transcription	HSMM	muscle
10	chr1:9810200-9829200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:9810400-9825800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:9811600-9832400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:9811600-9832400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:9811800-9832400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:9811800-9857000	Weak transcription	Aorta	Aorta
16	chr1:9812000-9826200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:9812400-9832200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:9812600-9829000	Weak transcription	Stomach Mucosa	stomach
19	chr1:9812800-9831000	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:9813400-9829000	Weak transcription	Colonic Mucosa	Colon
21	chr1:9813400-9830400	Weak transcription	GM12878-XiMat	blood
22	chr1:9813600-9823600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:9813600-9824800	Weak transcription	Osteobl	bone
24	chr1:9813600-9825400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:9813600-9825800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:9813600-9831800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:9813600-9832400	Weak transcription	Right Ventricle	heart
28	chr1:9813800-9832400	Weak transcription	Adipose Nuclei	Adipose
29	chr1:9813800-9852200	Weak transcription	Right Atrium	heart
30	chr1:9814000-9823600	Weak transcription	Lung	lung
31	chr1:9814200-9823400	Weak transcription	Spleen	Spleen
32	chr1:9814200-9827000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:9815000-9822400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:9815200-9822600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:9815200-9823200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:9815400-9823400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:9815400-9824000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:9815400-9824400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:9815400-9826000	Weak transcription	A549	lung
40	chr1:9815400-9829200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:9815400-9831600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr1:9815400-9832400	Weak transcription	Fetal Intestine Large	intestine
43	chr1:9815400-9832600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:9815600-9829600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr1:9815600-9830800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:9815800-9823400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:9816200-9823400	Weak transcription	Primary T cells from cord blood	blood
48	chr1:9816200-9826200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:9816400-9824800	Weak transcription	NH-A	brain
50	chr1:9816400-9831800	Weak transcription	Brain Germinal Matrix	brain

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