Variant report

Variant	rs6712173
Chromosome Location	chr2:149310384-149310385
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	chr2:149308756..149311819-chr2:149312294..149315148,3	K562	blood:
2	chr2:149300100..149301867-chr2:149308613..149310548,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10164839	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10210601	1.00[CHB][hapmap];0.85[GIH][hapmap]
rs10497036	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11901990	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12691798	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1448894	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16828945	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16829008	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16829022	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16829052	1.00[CHB][hapmap]
rs2382229	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2890923	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972370	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4972371	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6430319	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6430320	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6430321	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6430331	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[EUR][1000 genomes]
rs6715405	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6721673	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6725114	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs6740827	0.82[CHB][hapmap];0.85[GIH][hapmap]
rs6760718	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7583200	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7592501	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7595798	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1000101	chr2:149165813-149361220	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2762913	chr2:149249683-149345487	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv527539	chr2:149283070-149330251	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149292800-149310400	Weak transcription	Right Atrium	heart
2	chr2:149303200-149311000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:149304400-149310400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:149305200-149310400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:149308800-149310400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:149309000-149311000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:149309200-149312000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:149309400-149310400	Weak transcription	Placenta	Placenta
9	chr2:149309800-149310600	Enhancers	Lung	lung
10	chr2:149310000-149310400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr2:149310000-149310600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr2:149310000-149311400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:149310200-149310400	Enhancers	Primary B cells from peripheral blood	blood
14	chr2:149310200-149310400	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr2:149310200-149310400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:149310200-149310400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:149310200-149310400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:149310200-149310400	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr2:149310200-149310400	Enhancers	Fetal Thymus	thymus
20	chr2:149310200-149310400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:149310200-149310400	Flanking Active TSS	HSMM	muscle
22	chr2:149310200-149310400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr2:149310200-149310600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr2:149310200-149310600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:149310200-149310600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr2:149310200-149310600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr2:149310200-149310600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr2:149310200-149310600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr2:149310200-149310600	Flanking Active TSS	Thymus	Thymus
30	chr2:149310200-149310800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:149310200-149310800	Enhancers	Fetal Brain Female	brain
32	chr2:149310200-149310800	Bivalent/Poised TSS	HepG2	liver
33	chr2:149310200-149310800	Active TSS	K562	blood
34	chr2:149310200-149311000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr2:149310200-149311000	Active TSS	Aorta	Aorta
36	chr2:149310200-149311000	Active TSS	Brain Cingulate Gyrus	brain
37	chr2:149310200-149311000	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr2:149310200-149311000	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr2:149310200-149311000	Active TSS	Rectal Smooth Muscle	rectum
40	chr2:149310200-149311000	Flanking Active TSS	GM12878-XiMat	blood
41	chr2:149310200-149311200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:149310200-149311200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr2:149310200-149311200	Active TSS	Primary B cells from cord blood	blood
44	chr2:149310200-149311200	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr2:149310200-149311200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr2:149310200-149311200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr2:149310200-149311200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:149310200-149311200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:149310200-149311200	Active TSS	Muscle Satellite Cultured Cells	--
50	chr2:149310200-149311200	Active TSS	Brain Hippocampus Middle	brain

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