Variant report

Variant	rs28646873
Chromosome Location	chr2:86021675-86021676
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86019488..86022075-chr2:86030495..86033177,2	K562	blood:
2	chr2:86020003..86022831-chr2:86024128..86027495,3	K562	blood:
3	chr2:86015229..86018634-chr2:86021632..86024903,4	K562	blood:
4	chr2:86015379..86018037-chr2:86020333..86023146,3	MCF-7	breast:
5	chr2:86020913..86022569-chr2:86028373..86031162,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs60869707	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv979290	chr2:86015956-86029004	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86001400-86023000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:86001600-86023000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:86013200-86023000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:86013600-86023200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:86014200-86023200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:86015400-86024800	Enhancers	Brain Angular Gyrus	brain
7	chr2:86016000-86026200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:86016200-86022600	Weak transcription	Fetal Intestine Small	intestine
9	chr2:86016800-86022000	Enhancers	NHLF	lung
10	chr2:86016800-86023600	Enhancers	Brain Anterior Caudate	brain
11	chr2:86016800-86024400	Enhancers	Fetal Brain Male	brain
12	chr2:86017200-86023400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:86017200-86024600	Enhancers	A549	lung
14	chr2:86017200-86024800	Enhancers	Brain Cingulate Gyrus	brain
15	chr2:86017400-86024800	Enhancers	Brain Substantia Nigra	brain
16	chr2:86017800-86025200	Enhancers	Adipose Nuclei	Adipose
17	chr2:86018600-86022200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:86018600-86024600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:86018800-86024200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:86018800-86024600	Enhancers	Colon Smooth Muscle	Colon
21	chr2:86018800-86024600	Enhancers	Fetal Lung	lung
22	chr2:86018800-86027000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:86019000-86022000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:86019000-86024400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:86019000-86024600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:86019200-86022800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:86019200-86024800	Enhancers	HSMMtube	muscle
28	chr2:86019400-86022600	Enhancers	Fetal Stomach	stomach
29	chr2:86019400-86023600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr2:86019400-86025400	Enhancers	Fetal Muscle Leg	muscle
31	chr2:86019600-86021800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:86019600-86024600	Enhancers	Brain Germinal Matrix	brain
33	chr2:86019600-86024800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:86019600-86024800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:86019600-86025000	Enhancers	Fetal Heart	heart
36	chr2:86019800-86023600	Enhancers	HepG2	liver
37	chr2:86019800-86024400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:86019800-86025400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr2:86020000-86021800	Enhancers	Stomach Mucosa	stomach
40	chr2:86020000-86028200	Enhancers	Liver	Liver
41	chr2:86020200-86022200	Weak transcription	Fetal Intestine Large	intestine
42	chr2:86020200-86023600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:86020400-86021800	Weak transcription	Colonic Mucosa	Colon
44	chr2:86020400-86022800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:86020400-86023000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:86020400-86023000	Weak transcription	Esophagus	oesophagus
47	chr2:86020400-86023200	Weak transcription	NH-A	brain
48	chr2:86020800-86023200	Weak transcription	HUVEC	blood vessel
49	chr2:86020800-86023200	Weak transcription	Osteobl	bone
50	chr2:86021000-86024600	Enhancers	Right Ventricle	heart

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