Variant report

Variant	rs848551
Chromosome Location	chr2:36700639-36700640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs3770849	0.81[ASN][1000 genomes]
rs848536	0.84[ASW][hapmap];1.00[CEU][hapmap];0.84[CHD][hapmap];0.92[GIH][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs848543	0.89[MEX][hapmap];0.88[MKK][hapmap]
rs848557	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs848560	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs848561	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs848562	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv581468	chr2:36687111-36715689	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36679800-36704000	Weak transcription	Fetal Brain Female	brain
2	chr2:36683800-36704000	Weak transcription	Pancreas	Pancrea
3	chr2:36687200-36704000	Weak transcription	Gastric	stomach
4	chr2:36687200-36712000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:36688400-36701600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:36688400-36704200	Weak transcription	Spleen	Spleen
7	chr2:36688400-36704400	Weak transcription	Colonic Mucosa	Colon
8	chr2:36688600-36704000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:36688600-36725600	Weak transcription	Small Intestine	intestine
10	chr2:36689000-36704000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:36689200-36701000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:36689200-36704000	Weak transcription	Brain Angular Gyrus	brain
13	chr2:36689200-36706400	Weak transcription	Thymus	Thymus
14	chr2:36690200-36702000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:36691000-36704600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:36691200-36701400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:36691600-36704000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:36692400-36701600	Weak transcription	Fetal Intestine Small	intestine
19	chr2:36693000-36704400	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:36693000-36704400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:36694400-36701800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:36694400-36702000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:36694400-36704000	Weak transcription	Right Ventricle	heart
24	chr2:36694800-36704200	Weak transcription	Fetal Brain Male	brain
25	chr2:36695800-36704400	Weak transcription	Esophagus	oesophagus
26	chr2:36696000-36701400	Weak transcription	Fetal Intestine Large	intestine
27	chr2:36696000-36701400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:36696000-36702800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:36696400-36701600	Weak transcription	Left Ventricle	heart
30	chr2:36696400-36702000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:36696400-36704000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:36696400-36704000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:36696400-36704000	Weak transcription	Ovary	ovary
34	chr2:36696400-36704200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:36696600-36704000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:36696800-36704200	Weak transcription	Fetal Kidney	kidney
37	chr2:36697000-36701000	Strong transcription	HSMM	muscle
38	chr2:36697000-36703800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:36697000-36704200	Weak transcription	Fetal Heart	heart
40	chr2:36697200-36701400	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:36697200-36703200	Strong transcription	Osteobl	bone
42	chr2:36697200-36704000	Weak transcription	Fetal Stomach	stomach
43	chr2:36697200-36704000	Weak transcription	Lung	lung
44	chr2:36697400-36701000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:36697600-36701600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:36697600-36703800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:36697600-36704000	Weak transcription	Aorta	Aorta
48	chr2:36697800-36701000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:36697800-36701200	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:36697800-36702600	Strong transcription	HSMMtube	muscle

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