Variant report

Variant	rs13390230
Chromosome Location	chr2:99306147-99306148
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	chr2:99301026..99304352-chr2:99305405..99307955,3	K562	blood:
2	chr2:99296638..99298946-chr2:99305631..99307983,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10173578	0.86[AMR][1000 genomes]
rs10207277	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10207790	0.86[AMR][1000 genomes]
rs12328659	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13397574	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs13412203	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13425789	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs7586108	0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv2841	chr2:99296874-99342362	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99234600-99310600	Weak transcription	Small Intestine	intestine
2	chr2:99249800-99318000	Weak transcription	Psoas Muscle	Psoas
3	chr2:99251600-99306600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:99255600-99306800	Weak transcription	Colonic Mucosa	Colon
5	chr2:99265600-99306600	Weak transcription	Lung	lung
6	chr2:99282800-99306600	Weak transcription	Left Ventricle	heart
7	chr2:99288000-99310000	Weak transcription	Thymus	Thymus
8	chr2:99292000-99310400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:99292200-99306600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:99292200-99312800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:99293400-99325200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:99294200-99313600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:99294200-99315000	Weak transcription	Fetal Intestine Large	intestine
14	chr2:99294400-99315000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:99294400-99318600	Weak transcription	Spleen	Spleen
16	chr2:99294600-99306600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:99294600-99312600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:99294600-99314200	Weak transcription	Fetal Intestine Small	intestine
19	chr2:99295000-99325200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:99295200-99312600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:99295600-99310000	Weak transcription	Fetal Thymus	thymus
22	chr2:99295600-99310400	Weak transcription	Dnd41	blood
23	chr2:99300000-99315600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:99300400-99306800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:99301600-99315800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr2:99301800-99310400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr2:99302400-99307600	Weak transcription	Brain Angular Gyrus	brain
28	chr2:99302400-99318400	Weak transcription	Ovary	ovary
29	chr2:99302600-99306400	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:99302600-99306800	Weak transcription	Brain Anterior Caudate	brain
31	chr2:99302600-99308600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:99302600-99313000	Weak transcription	Right Ventricle	heart
33	chr2:99303200-99306400	Weak transcription	Pancreas	Pancrea
34	chr2:99303200-99336400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:99303800-99311800	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr2:99304000-99307200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:99304000-99307200	Strong transcription	HepG2	liver
38	chr2:99304000-99318800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:99304400-99306600	Weak transcription	Brain Substantia Nigra	brain
40	chr2:99304400-99306800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr2:99304600-99306600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:99304800-99306600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:99304800-99309000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr2:99305000-99316800	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr2:99305200-99306400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr2:99305200-99306800	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr2:99305200-99307600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:99305800-99306400	Weak transcription	Primary T cells from cord blood	blood
49	chr2:99306000-99306800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr2:99306000-99306800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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