Variant report

Variant	rs11678320
Chromosome Location	chr2:58362161-58362162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1016771	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1051061	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1100188	0.84[CEU][hapmap];1.00[YRI][hapmap]
rs12622856	1.00[YRI][hapmap]
rs12996679	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs12999901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13011711	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2717029	1.00[YRI][hapmap]
rs2717039	1.00[YRI][hapmap]
rs35248619	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3771213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57390191	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62140014	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6727746	0.82[AMR][1000 genomes]
rs848278	1.00[YRI][hapmap]
rs848279	0.87[CEU][hapmap]
rs848280	0.83[CEU][hapmap]
rs848282	0.83[CEU][hapmap]
rs848291	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs848292	0.87[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][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	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874202	chr2:58269871-58375688	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58311200-58382400	Weak transcription	Aorta	Aorta
2	chr2:58315200-58389600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:58318200-58373200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:58319800-58367200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:58332400-58370800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:58336400-58365000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:58338200-58365400	Weak transcription	Fetal Intestine Small	intestine
8	chr2:58340600-58363000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:58340600-58367000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:58340600-58373600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:58344400-58386000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:58346000-58384400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:58346600-58373600	Weak transcription	NHEK	skin
14	chr2:58346800-58387200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:58347200-58373800	Weak transcription	Hela-S3	cervix
16	chr2:58347800-58369800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:58347800-58384000	Weak transcription	Fetal Kidney	kidney
18	chr2:58347800-58386600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:58348400-58373400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:58348400-58373600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:58348600-58382400	Weak transcription	Fetal Intestine Large	intestine
22	chr2:58348800-58365600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:58349000-58421200	Weak transcription	Brain Substantia Nigra	brain
24	chr2:58350400-58363600	Weak transcription	Right Ventricle	heart
25	chr2:58350400-58383800	Weak transcription	K562	blood
26	chr2:58350800-58367400	Weak transcription	Primary T cells from cord blood	blood
27	chr2:58350800-58370800	Weak transcription	Liver	Liver
28	chr2:58351000-58364600	Weak transcription	HUVEC	blood vessel
29	chr2:58351000-58371800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:58351000-58382400	Weak transcription	Esophagus	oesophagus
31	chr2:58351000-58384600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:58351200-58362200	Weak transcription	Dnd41	blood
33	chr2:58351200-58365800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr2:58353800-58388200	Weak transcription	Small Intestine	intestine
35	chr2:58357000-58363600	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr2:58358000-58366400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:58358200-58393800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:58358400-58389000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr2:58358600-58362400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:58358800-58364600	Weak transcription	NH-A	brain
41	chr2:58358800-58367200	Weak transcription	Ovary	ovary
42	chr2:58358800-58382400	Weak transcription	Pancreas	Pancrea
43	chr2:58358800-58385200	Weak transcription	Placenta	Placenta
44	chr2:58358800-58385600	Weak transcription	Fetal Thymus	thymus
45	chr2:58359000-58367000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:58359000-58367400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:58359000-58368000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:58359000-58371400	Weak transcription	Colonic Mucosa	Colon
49	chr2:58359000-58386600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:58359000-58387400	Weak transcription	Fetal Muscle Trunk	muscle

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