Variant report

Variant	rs10210749
Chromosome Location	chr2:180096472-180096473
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10178559	0.85[ASN][1000 genomes]
rs10205588	0.85[ASN][1000 genomes]
rs12611473	0.85[ASN][1000 genomes]
rs12613089	0.85[ASN][1000 genomes]
rs12616452	0.85[ASN][1000 genomes]
rs12618724	0.81[ASN][1000 genomes]
rs13382573	0.85[ASN][1000 genomes]
rs13387502	0.81[ASN][1000 genomes]
rs13408774	0.81[ASN][1000 genomes]
rs13422693	0.95[ASN][1000 genomes]
rs13429191	0.81[ASN][1000 genomes]
rs7601965	0.95[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	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv834471	chr2:179974303-180123027	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1798738	chr2:180084168-180100584	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv834472	chr2:180091670-180220448	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180067600-180097600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:180067600-180104600	Weak transcription	Fetal Kidney	kidney
3	chr2:180068000-180103800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:180083800-180102200	Weak transcription	HMEC	breast
5	chr2:180087200-180097600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:180088800-180098400	Weak transcription	Spleen	Spleen
7	chr2:180089600-180115200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:180089800-180100200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:180089800-180100200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:180089800-180102000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:180090000-180098400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:180090000-180102000	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:180090600-180102000	Weak transcription	Psoas Muscle	Psoas
14	chr2:180090600-180102400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:180091200-180102400	Weak transcription	Left Ventricle	heart
16	chr2:180091200-180104600	Weak transcription	Right Ventricle	heart
17	chr2:180091600-180098200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:180091600-180100400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:180091800-180100200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:180091800-180100600	Weak transcription	Brain Angular Gyrus	brain
21	chr2:180091800-180101800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:180091800-180102000	Weak transcription	Fetal Brain Male	brain
23	chr2:180091800-180102200	Weak transcription	Fetal Brain Female	brain
24	chr2:180091800-180102200	Weak transcription	Fetal Heart	heart
25	chr2:180091800-180102400	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:180091800-180127200	Weak transcription	Fetal Lung	lung
27	chr2:180092000-180097600	Weak transcription	A549	lung
28	chr2:180092000-180102800	Weak transcription	Fetal Intestine Large	intestine
29	chr2:180092200-180097800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:180092200-180098400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:180092200-180100200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:180092200-180100400	Weak transcription	Brain Germinal Matrix	brain
33	chr2:180092200-180101800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:180092200-180102400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:180092600-180099400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr2:180092600-180099800	Weak transcription	Brain Substantia Nigra	brain
37	chr2:180092600-180100600	Weak transcription	Aorta	Aorta
38	chr2:180092800-180098200	Weak transcription	Lung	lung
39	chr2:180092800-180100200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:180092800-180100600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:180092800-180102000	Weak transcription	Right Atrium	heart
42	chr2:180092800-180102000	Weak transcription	NHLF	lung
43	chr2:180092800-180104600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:180092800-180112400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:180093000-180098400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:180093000-180098400	Weak transcription	Gastric	stomach
47	chr2:180093000-180098400	Weak transcription	Pancreas	Pancrea
48	chr2:180093000-180098800	Weak transcription	Ovary	ovary
49	chr2:180093000-180100200	Weak transcription	Adipose Nuclei	Adipose
50	chr2:180093000-180100200	Weak transcription	Brain Inferior Temporal Lobe	brain

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