Variant report

Variant	rs12125649
Chromosome Location	chr1:84664190-84664191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10493742	1.00[ASN][1000 genomes]
rs10493743	1.00[ASN][1000 genomes]
rs1085093	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12118371	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12118428	1.00[ASN][1000 genomes]
rs12119854	1.00[ASN][1000 genomes]
rs12120380	1.00[ASN][1000 genomes]
rs12120905	1.00[ASN][1000 genomes]
rs12125251	1.00[ASN][1000 genomes]
rs12126397	1.00[ASN][1000 genomes]
rs12126515	1.00[ASN][1000 genomes]
rs12131968	1.00[ASN][1000 genomes]
rs12133196	1.00[ASN][1000 genomes]
rs12135562	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135679	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12138857	1.00[ASN][1000 genomes]
rs12140562	1.00[ASN][1000 genomes]
rs12140964	1.00[ASN][1000 genomes]
rs12141166	1.00[ASN][1000 genomes]
rs12142220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1246574	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17130475	1.00[ASN][1000 genomes]
rs1925712	1.00[ASN][1000 genomes]
rs316636	1.00[ASN][1000 genomes]
rs316641	1.00[ASN][1000 genomes]
rs316689	1.00[ASN][1000 genomes]
rs72942037	1.00[ASN][1000 genomes]
rs7519127	1.00[ASN][1000 genomes]
rs784828	1.00[CHB][hapmap]
rs784830	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs784831	1.00[ASN][1000 genomes]
rs813056	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs868612	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv871656	chr1:84601048-84693671	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv997601	chr1:84609346-84672859	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1005225	chr1:84609871-84667950	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv999772	chr1:84611207-84667218	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1013911	chr1:84619164-84667950	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv871375	chr1:84622793-84678418	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv871643	chr1:84628655-84705481	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv871538	chr1:84633116-84717983	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv830414	chr1:84636738-84824651	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv1011105	chr1:84638386-84674276	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv1837139	chr1:84649799-84670584	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84640400-84665000	Weak transcription	NH-A	brain
2	chr1:84652200-84675000	Weak transcription	Pancreas	Pancrea
3	chr1:84652400-84689800	Weak transcription	Aorta	Aorta
4	chr1:84653400-84674800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:84657200-84665400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:84657400-84664800	Weak transcription	Brain Angular Gyrus	brain
7	chr1:84657400-84665000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:84657600-84708000	Weak transcription	Left Ventricle	heart
9	chr1:84657800-84665400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:84658400-84667600	Weak transcription	NHDF-Ad	bronchial
11	chr1:84658600-84665200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:84659000-84666600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:84659000-84672000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:84659000-84674600	Weak transcription	Osteobl	bone
15	chr1:84659000-84685000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:84659000-84700600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:84659000-84700800	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:84659200-84677000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:84659200-84688400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:84659400-84666400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr1:84659400-84666600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr1:84659400-84668000	Strong transcription	Fetal Thymus	thymus
23	chr1:84659400-84670400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:84659400-84672000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:84659400-84675200	Strong transcription	Dnd41	blood
26	chr1:84659400-84677200	Weak transcription	Psoas Muscle	Psoas
27	chr1:84659400-84685400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:84659600-84665000	Strong transcription	Primary B cells from cord blood	blood
29	chr1:84659600-84665000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:84659600-84665000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:84659600-84665000	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:84659600-84665600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:84659600-84672000	Weak transcription	HMEC	breast
34	chr1:84659600-84673600	Weak transcription	Placenta	Placenta
35	chr1:84659600-84675000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:84659800-84664600	Weak transcription	Ovary	ovary
37	chr1:84659800-84665000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:84659800-84665000	Weak transcription	Thymus	Thymus
39	chr1:84659800-84667400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:84659800-84701400	Weak transcription	NHLF	lung
41	chr1:84660200-84666800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:84660200-84672400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:84660400-84674400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr1:84660600-84664600	Weak transcription	Fetal Intestine Large	intestine
45	chr1:84660600-84664800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:84660600-84665400	Weak transcription	Fetal Stomach	stomach
47	chr1:84660600-84683200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:84660600-84686200	Weak transcription	Fetal Intestine Small	intestine
49	chr1:84660800-84688400	Weak transcription	Fetal Brain Male	brain
50	chr1:84661000-84665000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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