Variant report

Variant	rs12692400
Chromosome Location	chr2:10361553-10361554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10359643..10362171-chr2:10579070..10581168,2	K562	blood:
2	chr2:10359472..10362167-chr2:10583974..10586621,2	K562	blood:
3	chr2:10360606..10364064-chr2:10366598..10369959,4	K562	blood:
4	chr2:10350742..10353533-chr2:10359619..10362115,2	K562	blood:
5	chr2:10356862..10358929-chr2:10359866..10361666,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1006866	0.80[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10171793	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10207325	0.93[ASN][1000 genomes]
rs11674154	0.80[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11676328	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11689905	0.96[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13384598	0.85[ASN][1000 genomes]
rs13396180	0.93[ASN][1000 genomes]
rs16855984	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2357470	0.82[ASN][1000 genomes]
rs35362301	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4669558	0.80[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs56972249	0.83[ASN][1000 genomes]
rs60724710	0.85[ASN][1000 genomes]
rs60785900	0.93[ASN][1000 genomes]
rs6432078	0.83[ASN][1000 genomes]
rs6713481	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6716758	0.84[ASN][1000 genomes]
rs6752801	0.86[ASN][1000 genomes]
rs6757762	1.00[JPT][hapmap]
rs6761159	0.85[ASN][1000 genomes]
rs7591168	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7598088	0.93[ASN][1000 genomes]
rs7601274	0.86[ASN][1000 genomes]
rs7601376	0.86[ASN][1000 genomes]
rs887964	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs887965	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv818977	chr2:10333767-10393038	Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv34981	chr2:10341468-10384302	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv35171	chr2:10341468-10384302	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2756904	chr2:10347142-10406706	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	esv2759024	chr2:10347142-10406706	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv873637	chr2:10349858-10381434	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv962058	chr2:10350771-10376962	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv873638	chr2:10351852-10381434	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10339400-10362000	Weak transcription	Fetal Intestine Small	intestine
2	chr2:10349800-10362400	Weak transcription	Spleen	Spleen
3	chr2:10350400-10375200	Weak transcription	Right Atrium	heart
4	chr2:10357200-10362400	Weak transcription	K562	blood
5	chr2:10357800-10362400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:10357800-10368400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:10358400-10361600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:10358600-10361600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:10358600-10363800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:10358800-10361800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:10359000-10362800	Enhancers	Brain Germinal Matrix	brain
12	chr2:10359600-10364600	Weak transcription	Fetal Intestine Large	intestine
13	chr2:10360200-10361600	Enhancers	Fetal Brain Female	brain
14	chr2:10360200-10362000	Enhancers	HSMMtube	muscle
15	chr2:10360400-10362000	Enhancers	Osteobl	bone
16	chr2:10360400-10362200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:10360400-10362200	Enhancers	HSMM	muscle
18	chr2:10360600-10361800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:10360600-10367600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:10360800-10361600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:10360800-10362000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:10361200-10361600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:10361200-10361600	Bivalent Enhancer	Placenta	Placenta
24	chr2:10361200-10362200	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr2:10361200-10362400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr2:10361400-10361600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:10361400-10361800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:10361400-10361800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:10361400-10361800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr2:10361400-10361800	Enhancers	NHLF	lung
31	chr2:10361400-10362000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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