Variant report

Variant	rs12624292
Chromosome Location	chr2:172825343-172825344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172824373..172826532-chr2:172862535..172864466,2	K562	blood:
2	chr2:172825003..172826821-chr2:172828092..172830366,2	K562	blood:
3	chr2:172816237..172818106-chr2:172823230..172825687,2	K562	blood:
4	chr2:172824513..172827435-chr2:172859030..172861572,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12616766	1.00[ASW][hapmap]
rs12620126	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs12622385	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12622772	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs12622895	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs17581481	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17581509	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17581610	0.81[MKK][hapmap]
rs17615262	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs17615352	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3736499	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs3765166	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs3770448	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs3770455	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs3796000	0.84[EUR][1000 genomes]
rs3821093	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs57377675	0.87[AMR][1000 genomes]
rs57887937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58368273	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58540694	0.84[EUR][1000 genomes]
rs58955804	0.85[ASN][1000 genomes]
rs6751078	0.81[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172779800-172828400	Weak transcription	Aorta	Aorta
2	chr2:172780000-172829000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:172780200-172840400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:172780400-172848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:172780600-172847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:172780600-172854200	Weak transcription	Small Intestine	intestine
7	chr2:172783600-172851000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:172796000-172855200	Weak transcription	Gastric	stomach
9	chr2:172796800-172832200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:172807400-172845400	Weak transcription	Spleen	Spleen
11	chr2:172808000-172847200	Weak transcription	Fetal Brain Female	brain
12	chr2:172808000-172849400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:172809800-172837800	Weak transcription	Esophagus	oesophagus
14	chr2:172810000-172862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:172810400-172825400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:172811400-172826000	Weak transcription	Hela-S3	cervix
17	chr2:172811400-172846200	Weak transcription	Brain Substantia Nigra	brain
18	chr2:172811800-172852200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:172811800-172855600	Weak transcription	Fetal Heart	heart
20	chr2:172812400-172845200	Weak transcription	Colonic Mucosa	Colon
21	chr2:172813000-172826400	Weak transcription	Fetal Intestine Small	intestine
22	chr2:172813000-172826400	Weak transcription	Fetal Stomach	stomach
23	chr2:172813000-172859200	Weak transcription	Fetal Brain Male	brain
24	chr2:172814000-172844400	Weak transcription	Pancreas	Pancrea
25	chr2:172815200-172828400	Weak transcription	Lung	lung
26	chr2:172815200-172835800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:172815400-172850000	Weak transcription	HSMMtube	muscle
28	chr2:172815600-172827800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:172816800-172844200	Weak transcription	NHLF	lung
30	chr2:172817800-172833800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:172817800-172833800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:172817800-172845200	Weak transcription	Psoas Muscle	Psoas
33	chr2:172820600-172825800	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr2:172820600-172828200	Strong transcription	K562	blood
35	chr2:172821000-172838600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:172821000-172862800	Weak transcription	Brain Angular Gyrus	brain
37	chr2:172821400-172828200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:172821400-172835000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:172821600-172825600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:172821600-172826400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:172821600-172827800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:172821800-172825800	Strong transcription	A549	lung
43	chr2:172821800-172826200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:172821800-172826200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:172821800-172828600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:172821800-172831200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:172822000-172825400	Strong transcription	HUVEC	blood vessel
48	chr2:172822000-172825800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:172822000-172825800	Strong transcription	Primary hematopoietic stem cells	blood
50	chr2:172822000-172833800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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