Variant report

Variant	rs57359413
Chromosome Location	chr2:99448289-99448290
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56943554	1.00[EUR][1000 genomes]
rs57480100	1.00[EUR][1000 genomes]
rs61419135	1.00[EUR][1000 genomes]
rs61604726	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv582517	chr2:99440917-99487972	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99438800-99448600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:99439800-99448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:99440000-99460600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:99440200-99449800	Weak transcription	Colonic Mucosa	Colon
5	chr2:99440400-99453800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:99440400-99463400	Weak transcription	Fetal Intestine Large	intestine
7	chr2:99440600-99449600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:99440600-99449600	Weak transcription	HMEC	breast
9	chr2:99440600-99453800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:99441000-99449600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:99441800-99449000	Weak transcription	Brain Anterior Caudate	brain
12	chr2:99442600-99449800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr2:99443000-99448600	Weak transcription	Brain Angular Gyrus	brain
14	chr2:99443000-99448600	Weak transcription	Right Ventricle	heart
15	chr2:99443600-99450400	Weak transcription	Pancreas	Pancrea
16	chr2:99443800-99448600	Weak transcription	Esophagus	oesophagus
17	chr2:99443800-99449600	Weak transcription	Gastric	stomach
18	chr2:99444200-99450800	Enhancers	HepG2	liver
19	chr2:99444200-99451000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:99445400-99450000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:99445600-99450800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:99446000-99449400	Weak transcription	Spleen	Spleen
23	chr2:99446000-99449800	Weak transcription	Stomach Mucosa	stomach
24	chr2:99446000-99450200	Weak transcription	Right Atrium	heart
25	chr2:99446200-99449400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:99446400-99448400	Weak transcription	Lung	lung
27	chr2:99446400-99451600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:99446400-99451600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr2:99446600-99448600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr2:99446600-99448800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:99446600-99449600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr2:99446600-99449800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr2:99446600-99449800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:99446800-99448600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:99446800-99449400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:99446800-99449800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:99446800-99452000	Weak transcription	Primary T cells from cord blood	blood
38	chr2:99447000-99448800	Weak transcription	HUVEC	blood vessel
39	chr2:99447000-99449000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:99447000-99450400	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:99447200-99450000	Strong transcription	Fetal Intestine Small	intestine
42	chr2:99447400-99449000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:99447600-99449000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:99447600-99451000	Enhancers	Left Ventricle	heart
45	chr2:99447800-99449000	Weak transcription	Dnd41	blood
46	chr2:99447800-99449200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr2:99447800-99449400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:99447800-99449400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:99448000-99448400	Weak transcription	Fetal Thymus	thymus
50	chr2:99448200-99448400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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