Variant report

Variant	rs12034313
Chromosome Location	chr1:9825543-9825544
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10779730	0.80[EUR][1000 genomes]
rs10864436	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11121485	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11121486	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11121488	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11121492	0.82[ASN][1000 genomes]
rs1141402	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11804356	0.80[EUR][1000 genomes]
rs12025864	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034239	0.91[ASN][1000 genomes]
rs12037599	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12042293	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1228434	0.82[ASN][1000 genomes]
rs12564733	0.82[AMR][1000 genomes]
rs17034335	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17034340	0.91[ASN][1000 genomes]
rs41280774	0.91[EUR][1000 genomes]
rs41280776	0.91[EUR][1000 genomes]
rs57480158	0.83[AFR][1000 genomes]
rs7550295	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs946278	0.84[AFR][1000 genomes]
rs946279	0.84[AFR][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	chr1:9813600-9825800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:9813600-9831800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:9813600-9832400	Weak transcription	Right Ventricle	heart
25	chr1:9813800-9832400	Weak transcription	Adipose Nuclei	Adipose
26	chr1:9813800-9852200	Weak transcription	Right Atrium	heart
27	chr1:9814200-9827000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:9815400-9826000	Weak transcription	A549	lung
29	chr1:9815400-9829200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:9815400-9831600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:9815400-9832400	Weak transcription	Fetal Intestine Large	intestine
32	chr1:9815400-9832600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:9815600-9829600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:9815600-9830800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:9816200-9826200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:9816400-9831800	Weak transcription	Brain Germinal Matrix	brain
37	chr1:9816600-9842400	Weak transcription	HUVEC	blood vessel
38	chr1:9819600-9826800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:9820000-9826800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:9820000-9826800	Weak transcription	Brain Substantia Nigra	brain
41	chr1:9820200-9832400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:9820400-9825600	Strong transcription	Fetal Intestine Small	intestine
43	chr1:9820400-9826000	Weak transcription	NHLF	lung
44	chr1:9820400-9831600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr1:9820400-9832400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:9820400-9832600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr1:9820400-9832600	Weak transcription	Ovary	ovary
48	chr1:9820600-9826800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:9820600-9832400	Weak transcription	Left Ventricle	heart
50	chr1:9820600-9832600	Weak transcription	Fetal Lung	lung

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