Variant report

Variant	rs34199006
Chromosome Location	chr2:153582434-153582435
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	chr2:153581736..153584491-chr2:154342073..154344464,2	K562	blood:
2	chr2:153580599..153583236-chr2:153592438..153595174,3	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10497113	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931263	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931271	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931279	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1135617	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674911	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676069	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694512	0.84[ASN][1000 genomes]
rs11901227	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475871	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12478681	0.84[ASN][1000 genomes]
rs12693429	0.84[ASN][1000 genomes]
rs12989903	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12995388	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12999331	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13003670	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13006652	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13014141	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017131	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13022436	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023779	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13023975	0.82[EUR][1000 genomes]
rs1370499	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16831440	0.82[EUR][1000 genomes]
rs16831456	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17328776	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400456	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17400938	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400952	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400980	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083097	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2346551	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34454505	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34469468	0.83[EUR][1000 genomes]
rs34619076	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34775858	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35002744	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35421285	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35754252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35894330	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35937874	0.91[EUR][1000 genomes]
rs36107565	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36122595	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811568	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3811569	0.89[EUR][1000 genomes]
rs4575677	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434172	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66492085	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66849546	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6728189	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736003	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71417232	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71417235	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72871148	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7591590	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598878	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv1798142	chr2:153578113-153600123	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875293	chr2:153578900-153617420	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153575800-153582800	Weak transcription	Lung	lung
2	chr2:153575800-153587200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:153575800-153611600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:153575800-153611600	Weak transcription	Esophagus	oesophagus
5	chr2:153575800-153621400	Weak transcription	Pancreas	Pancrea
6	chr2:153576000-153594400	Weak transcription	Left Ventricle	heart
7	chr2:153576000-153615800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:153576200-153594800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:153576600-153587000	Weak transcription	Placenta	Placenta
10	chr2:153576800-153585200	Weak transcription	Fetal Stomach	stomach
11	chr2:153576800-153587200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:153576800-153591400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:153576800-153592600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:153576800-153592800	Weak transcription	NH-A	brain
15	chr2:153577000-153582800	Weak transcription	Psoas Muscle	Psoas
16	chr2:153577000-153586400	Weak transcription	NHEK	skin
17	chr2:153577000-153587200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:153577000-153592600	Weak transcription	Fetal Intestine Large	intestine
19	chr2:153577000-153592800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:153577000-153593000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:153577000-153593000	Weak transcription	Osteobl	bone
22	chr2:153577000-153594400	Weak transcription	Aorta	Aorta
23	chr2:153577000-153594600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:153577000-153595000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:153577200-153583600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:153577200-153584600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:153577200-153584800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:153577200-153586200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr2:153577200-153586400	Weak transcription	Primary T cells from cord blood	blood
30	chr2:153577200-153587000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:153577200-153592800	Weak transcription	Brain Anterior Caudate	brain
32	chr2:153577200-153593000	Weak transcription	Fetal Kidney	kidney
33	chr2:153577200-153593000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:153577200-153593400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:153577200-153594200	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:153577200-153594600	Weak transcription	Spleen	Spleen
37	chr2:153577200-153617600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:153577400-153586200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:153577400-153586400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:153577400-153587200	Weak transcription	Thymus	Thymus
41	chr2:153577400-153593000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:153577400-153593400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:153577600-153585600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr2:153577600-153587000	Weak transcription	Fetal Thymus	thymus
45	chr2:153577600-153587200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:153577600-153594200	Weak transcription	Fetal Intestine Small	intestine
47	chr2:153577600-153617800	Weak transcription	NHLF	lung
48	chr2:153577800-153583200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:153577800-153583800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:153577800-153592800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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