Variant report

Variant	rs848555
Chromosome Location	chr2:36698251-36698252
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36697741..36700351-chr2:36700679..36702284,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs848534	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs848544	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs848545	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs848546	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs848548	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs848549	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs848558	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs861051	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[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:92 , 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	chr2:36689000-36699000	Weak transcription	Primary T cells from cord blood	blood
11	chr2:36689000-36704000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:36689200-36700400	Strong transcription	Placenta	Placenta
13	chr2:36689200-36700600	Strong transcription	HepG2	liver
14	chr2:36689200-36701000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:36689200-36704000	Weak transcription	Brain Angular Gyrus	brain
16	chr2:36689200-36706400	Weak transcription	Thymus	Thymus
17	chr2:36689800-36698600	Strong transcription	Hela-S3	cervix
18	chr2:36690000-36699800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:36690200-36702000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:36690400-36699400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:36691000-36704600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:36691200-36701400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:36691600-36704000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:36692400-36701600	Weak transcription	Fetal Intestine Small	intestine
25	chr2:36693000-36704400	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:36693000-36704400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr2:36693800-36699000	Strong transcription	A549	lung
28	chr2:36694400-36701800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:36694400-36702000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:36694400-36704000	Weak transcription	Right Ventricle	heart
31	chr2:36694800-36704200	Weak transcription	Fetal Brain Male	brain
32	chr2:36695800-36704400	Weak transcription	Esophagus	oesophagus
33	chr2:36696000-36701400	Weak transcription	Fetal Intestine Large	intestine
34	chr2:36696000-36701400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:36696000-36702800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:36696400-36699200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:36696400-36699600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:36696400-36701600	Weak transcription	Left Ventricle	heart
39	chr2:36696400-36702000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:36696400-36704000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:36696400-36704000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:36696400-36704000	Weak transcription	Ovary	ovary
43	chr2:36696400-36704200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:36696600-36698400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:36696600-36699600	Weak transcription	HMEC	breast
46	chr2:36696600-36700600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:36696600-36704000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:36696800-36704200	Weak transcription	Fetal Kidney	kidney
49	chr2:36697000-36699000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:36697000-36699200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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