Variant report

Variant	rs71413620
Chromosome Location	chr2:149252268-149252269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:149244708..149247294-chr2:149251980..149254307,2	K562	blood:
2	chr2:149244268..149247294-chr2:149251555..149254307,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13008472	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13033892	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13034925	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16828700	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17357225	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17357457	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4972280	0.86[ASN][1000 genomes]
rs6751753	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs765056	0.86[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	esv2753542	chr2:149004714-149268503	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149227200-149259200	Weak transcription	Right Ventricle	heart
2	chr2:149227600-149259200	Weak transcription	Gastric	stomach
3	chr2:149227800-149259200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:149228000-149259200	Weak transcription	Pancreas	Pancrea
5	chr2:149242000-149257400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:149243800-149254000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:149244000-149253600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:149244200-149254200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:149244200-149261400	Weak transcription	Small Intestine	intestine
10	chr2:149245000-149252600	Weak transcription	Esophagus	oesophagus
11	chr2:149245400-149266800	Weak transcription	Thymus	Thymus
12	chr2:149246000-149261200	Weak transcription	Fetal Heart	heart
13	chr2:149247000-149266400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:149247200-149266200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:149247400-149259200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:149247600-149258800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:149247600-149291000	Weak transcription	Spleen	Spleen
18	chr2:149247800-149253600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:149247800-149266400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:149247800-149266800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr2:149247800-149266800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:149248000-149253000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:149248000-149266800	Weak transcription	Brain Angular Gyrus	brain
24	chr2:149248200-149252400	Weak transcription	Brain Substantia Nigra	brain
25	chr2:149248200-149259000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:149248200-149266800	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:149248400-149253200	Weak transcription	Primary T cells from cord blood	blood
28	chr2:149248400-149266600	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:149248400-149266600	Weak transcription	Fetal Brain Male	brain
30	chr2:149248400-149266800	Weak transcription	Fetal Brain Female	brain
31	chr2:149248600-149259000	Weak transcription	Ovary	ovary
32	chr2:149248600-149259200	Weak transcription	Adipose Nuclei	Adipose
33	chr2:149248600-149259200	Weak transcription	Aorta	Aorta
34	chr2:149248600-149266400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:149248600-149266800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:149248600-149266800	Weak transcription	Brain Anterior Caudate	brain
37	chr2:149248600-149266800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:149248600-149266800	Weak transcription	HSMM	muscle
39	chr2:149248600-149266800	Weak transcription	HSMMtube	muscle
40	chr2:149248600-149267000	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:149248800-149258800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:149248800-149259600	Weak transcription	Fetal Intestine Small	intestine
43	chr2:149248800-149265600	Weak transcription	Fetal Lung	lung
44	chr2:149248800-149266800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:149248800-149266800	Weak transcription	Fetal Intestine Large	intestine
46	chr2:149248800-149266800	Weak transcription	Fetal Stomach	stomach
47	chr2:149248800-149266800	Weak transcription	Left Ventricle	heart
48	chr2:149248800-149267000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:149248800-149269600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:149248800-149276800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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