Variant report

Variant	rs848499
Chromosome Location	chr2:36659943-36659944
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36659185..36660941-chr2:36665845..36668463,2	MCF-7	breast:
2	chr2:36581891..36584945-chr2:36659676..36663580,4	MCF-7	breast:
3	chr2:36605517..36607622-chr2:36658577..36660490,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260025	Chromatin interaction
ENSG00000150938	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2689711	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2689714	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs848506	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs848509	0.88[AMR][1000 genomes];0.92[EUR][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	esv2044427	chr2:36659943-36659944	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36640200-36680000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:36644200-36660000	Weak transcription	Fetal Brain Female	brain
3	chr2:36644400-36665600	Weak transcription	Gastric	stomach
4	chr2:36648000-36660200	Weak transcription	Pancreas	Pancrea
5	chr2:36648200-36660200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:36648200-36660400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:36649600-36662200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr2:36650600-36676600	Weak transcription	Stomach Mucosa	stomach
9	chr2:36651600-36668400	Weak transcription	Fetal Intestine Small	intestine
10	chr2:36651600-36668400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:36651800-36660200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:36651800-36668400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:36651800-36686800	Weak transcription	Colonic Mucosa	Colon
14	chr2:36652200-36668600	Weak transcription	Primary B cells from cord blood	blood
15	chr2:36652400-36660200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:36652400-36660200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:36653000-36667800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:36653400-36669400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:36654600-36660200	Genic enhancers	Muscle Satellite Cultured Cells	--
20	chr2:36654800-36660800	Enhancers	Ovary	ovary
21	chr2:36655200-36660400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:36655400-36662600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr2:36656800-36660200	Enhancers	Adipose Nuclei	Adipose
24	chr2:36656800-36660200	Weak transcription	HSMMtube	muscle
25	chr2:36656800-36661000	Enhancers	Fetal Stomach	stomach
26	chr2:36657000-36660400	Weak transcription	Hela-S3	cervix
27	chr2:36657000-36665600	Genic enhancers	A549	lung
28	chr2:36657200-36660000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:36657200-36660200	Enhancers	Rectal Smooth Muscle	rectum
30	chr2:36657200-36660400	Enhancers	Colon Smooth Muscle	Colon
31	chr2:36657600-36661200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr2:36657600-36661600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr2:36657800-36660000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:36657800-36660200	Weak transcription	Liver	Liver
35	chr2:36658000-36660000	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:36658000-36660200	Weak transcription	Right Atrium	heart
37	chr2:36658000-36660400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:36658000-36668400	Weak transcription	Esophagus	oesophagus
39	chr2:36658200-36660000	Weak transcription	Brain Anterior Caudate	brain
40	chr2:36658200-36660200	Enhancers	Stomach Smooth Muscle	stomach
41	chr2:36658200-36660800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:36658200-36661000	Enhancers	Fetal Kidney	kidney
43	chr2:36658400-36660000	Weak transcription	Right Ventricle	heart
44	chr2:36658400-36660200	Enhancers	Osteobl	bone
45	chr2:36658400-36665400	Enhancers	NHDF-Ad	bronchial
46	chr2:36658600-36660200	Enhancers	NHEK	skin
47	chr2:36658600-36660800	Enhancers	Fetal Muscle Leg	muscle
48	chr2:36658600-36661400	Enhancers	Fetal Lung	lung
49	chr2:36658800-36660200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:36658800-36660800	Enhancers	HUES64 Cell Line	embryonic stem cell

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