Variant report

Variant	rs73968079
Chromosome Location	chr2:153416226-153416227
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153414198..153416670-chr2:153417650..153421153,3	K562	blood:
2	chr2:153377943..153379745-chr2:153415461..153418420,2	K562	blood:
3	chr2:153414828..153416670-chr2:153417650..153420201,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11901762	1.00[AMR][1000 genomes]
rs60578674	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153399200-153427800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:153399400-153427600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:153399400-153429600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:153400000-153420800	Weak transcription	Hela-S3	cervix
5	chr2:153400000-153438000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:153400000-153468200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:153400600-153433400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:153400600-153442000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:153401600-153417400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:153402200-153427400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:153402400-153427000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:153403200-153448000	Weak transcription	Lung	lung
13	chr2:153403600-153418800	Weak transcription	Fetal Intestine Large	intestine
14	chr2:153404200-153442400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:153404800-153420000	Weak transcription	Esophagus	oesophagus
16	chr2:153404800-153425800	Weak transcription	Gastric	stomach
17	chr2:153405200-153441800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:153405400-153417400	Weak transcription	Adipose Nuclei	Adipose
19	chr2:153405400-153418800	Weak transcription	Ovary	ovary
20	chr2:153406200-153422800	Weak transcription	Fetal Kidney	kidney
21	chr2:153407200-153417800	Weak transcription	Stomach Mucosa	stomach
22	chr2:153407600-153437800	Weak transcription	Pancreas	Pancrea
23	chr2:153409200-153416400	Enhancers	Brain Substantia Nigra	brain
24	chr2:153409200-153417600	Enhancers	Brain Hippocampus Middle	brain
25	chr2:153411200-153416400	Enhancers	Brain Angular Gyrus	brain
26	chr2:153411400-153417000	Enhancers	Brain Anterior Caudate	brain
27	chr2:153411600-153416400	Weak transcription	A549	lung
28	chr2:153411800-153418400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr2:153412000-153416400	Enhancers	Fetal Muscle Leg	muscle
30	chr2:153412200-153418400	Weak transcription	Small Intestine	intestine
31	chr2:153412600-153418000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:153413200-153416400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:153413600-153417800	Enhancers	Osteobl	bone
34	chr2:153413800-153416800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:153413800-153417800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:153413800-153418000	Enhancers	NHDF-Ad	bronchial
37	chr2:153413800-153422000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:153414000-153417400	Weak transcription	Psoas Muscle	Psoas
39	chr2:153414000-153417600	Enhancers	NH-A	brain
40	chr2:153414000-153417600	Enhancers	NHLF	lung
41	chr2:153414000-153418800	Enhancers	Fetal Brain Male	brain
42	chr2:153414200-153417400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:153414200-153417400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:153414200-153417400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:153414200-153417600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:153414200-153417600	Enhancers	HSMM	muscle
47	chr2:153414200-153418000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr2:153414400-153433600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr2:153414600-153418000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:153414800-153417400	Enhancers	HSMMtube	muscle

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