Variant report

Variant	rs2001937
Chromosome Location	chr12:74932327-74932328
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	chr12:74686465..74688529-chr12:74932040..74934610,2	K562	blood:
2	chr1:45187088..45187986-chr12:74931515..74932372,2	NB4	blood:

Variant related genes	Relation type
ENSG00000199377	Chromatin interaction
ENSG00000251138	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10161518	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10785123	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10785134	0.80[ASN][1000 genomes]
rs10879802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10879803	0.82[CHB][hapmap];0.95[JPT][hapmap];0.97[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10879804	0.88[ASN][1000 genomes]
rs10879809	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11180076	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11180077	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11180078	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11180109	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11180110	0.81[ASN][1000 genomes]
rs12229964	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1493836	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1493838	0.81[ASN][1000 genomes]
rs17113542	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17113809	0.84[ASN][1000 genomes]
rs2613893	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2641479	0.81[ASN][1000 genomes]
rs2934409	0.96[JPT][hapmap];0.88[ASN][1000 genomes]
rs56778725	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59815789	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61057044	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6582223	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66962944	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68019310	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7138203	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72652868	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7301245	0.80[ASN][1000 genomes]
rs7303168	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7968406	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7980550	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv899292	chr12:74835107-74934162	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv899293	chr12:74835107-74995760	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv899295	chr12:74854750-74984992	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv470303	chr12:74880668-74945356	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	n/a
6	nsv899296	chr12:74880668-74974630	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74930200-74932400	Active TSS	A549	lung
2	chr12:74930600-74932400	Active TSS	Placenta	Placenta
3	chr12:74930600-74932400	Active TSS	Psoas Muscle	Psoas
4	chr12:74930600-74932400	Active TSS	HSMM	muscle
5	chr12:74930600-74932800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:74930800-74932400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:74930800-74932400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:74930800-74932400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:74930800-74932400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:74930800-74932400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:74930800-74932400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:74930800-74932400	Active TSS	Colon Smooth Muscle	Colon
13	chr12:74930800-74932400	Active TSS	Duodenum Mucosa	Duodenum
14	chr12:74930800-74932400	Active TSS	Fetal Brain Female	brain
15	chr12:74930800-74932400	Active TSS	Fetal Thymus	thymus
16	chr12:74930800-74932400	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr12:74930800-74932400	Active TSS	Thymus	Thymus
18	chr12:74930800-74932400	Active TSS	Hela-S3	cervix
19	chr12:74930800-74932400	Active TSS	HMEC	breast
20	chr12:74930800-74932400	Active TSS	HSMMtube	muscle
21	chr12:74930800-74932400	Active TSS	NHDF-Ad	bronchial
22	chr12:74930800-74932400	Active TSS	NHEK	skin
23	chr12:74930800-74932400	Active TSS	NHLF	lung
24	chr12:74930800-74932600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:74930800-74932600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:74930800-74932600	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr12:74930800-74932600	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr12:74930800-74932600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:74930800-74932600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr12:74930800-74932600	Active TSS	Placenta Amnion	Placenta Amnion
31	chr12:74930800-74932600	Active TSS	GM12878-XiMat	blood
32	chr12:74930800-74932800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:74930800-74932800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:74931000-74932400	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr12:74931000-74932400	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr12:74931000-74932400	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr12:74931000-74932400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:74931000-74932400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:74931000-74932400	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr12:74931000-74932400	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr12:74931000-74932400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:74931000-74932400	Active TSS	Brain Angular Gyrus	brain
43	chr12:74931000-74932400	Active TSS	Brain Anterior Caudate	brain
44	chr12:74931000-74932400	Active TSS	Brain Cingulate Gyrus	brain
45	chr12:74931000-74932400	Active TSS	Brain Hippocampus Middle	brain
46	chr12:74931000-74932400	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr12:74931000-74932400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:74931000-74932400	Active TSS	Brain Substantia Nigra	brain
49	chr12:74931000-74932400	Active TSS	Colonic Mucosa	Colon
50	chr12:74931000-74932400	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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