Variant report

Variant	rs12693156
Chromosome Location	chr2:179109214-179109215
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	chr2:179103455..179105342-chr2:179107240..179109495,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1111250	0.87[CEU][hapmap];1.00[CHB][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11902232	0.94[ASN][1000 genomes]
rs13387048	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425013	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17592042	0.81[CEU][hapmap]
rs34780417	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34835220	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35313685	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6433715	0.90[CHB][hapmap];0.94[ASN][1000 genomes]
rs6729314	0.90[EUR][1000 genomes]
rs6741744	0.88[ASN][1000 genomes]
rs6746200	0.86[CEU][hapmap];0.90[CHB][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7564722	0.87[CEU][hapmap];0.92[CHB][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs919682	0.87[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1011423	chr2:179084407-179166160	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179091200-179115000	Weak transcription	Aorta	Aorta
2	chr2:179101000-179115400	Weak transcription	Gastric	stomach
3	chr2:179104200-179111000	Weak transcription	Left Ventricle	heart
4	chr2:179105400-179120800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:179106600-179115200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:179106800-179115200	Weak transcription	Pancreas	Pancrea
7	chr2:179107200-179109600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:179107200-179110200	Weak transcription	HSMMtube	muscle
9	chr2:179107200-179110400	Weak transcription	Right Atrium	heart
10	chr2:179107200-179112400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:179107200-179115400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:179107200-179116000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:179107400-179109400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:179107400-179109600	Weak transcription	K562	blood
15	chr2:179107400-179109800	Weak transcription	HMEC	breast
16	chr2:179107400-179112000	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:179107400-179112000	Weak transcription	HSMM	muscle
18	chr2:179107400-179112400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:179107400-179115200	Weak transcription	Fetal Lung	lung
20	chr2:179107600-179111000	Weak transcription	Brain Angular Gyrus	brain
21	chr2:179107600-179115000	Weak transcription	Fetal Brain Female	brain
22	chr2:179107600-179115400	Weak transcription	Brain Anterior Caudate	brain
23	chr2:179107800-179123000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:179108000-179111600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:179108200-179112200	Weak transcription	Right Ventricle	heart
26	chr2:179108400-179115000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:179108400-179115800	Weak transcription	Fetal Brain Male	brain
28	chr2:179108800-179109400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:179109000-179109800	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:179109000-179109800	Weak transcription	Psoas Muscle	Psoas
31	chr2:179109200-179109800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:179109200-179111000	Enhancers	Skeletal Muscle Female	skeletal muscle

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