Variant report

Variant	rs60080259
Chromosome Location	chr2:39699643-39699644
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39694951..39697575-chr2:39697592..39700554,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17023746	1.00[AMR][1000 genomes]
rs59367765	1.00[AMR][1000 genomes]
rs61307566	1.00[AMR][1000 genomes]
rs61570293	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72925265	1.00[AMR][1000 genomes]
rs72925273	1.00[AMR][1000 genomes]
rs72925279	1.00[AMR][1000 genomes]
rs72925287	1.00[AMR][1000 genomes]
rs72927106	1.00[AMR][1000 genomes]
rs72927112	1.00[AMR][1000 genomes]
rs72930080	1.00[AMR][1000 genomes]
rs72930083	1.00[AMR][1000 genomes]
rs72930099	1.00[AMR][1000 genomes]
rs72931162	1.00[AMR][1000 genomes]
rs72931169	1.00[AMR][1000 genomes]
rs72931170	1.00[AMR][1000 genomes]
rs72932006	1.00[AMR][1000 genomes]
rs72932012	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72932020	1.00[AMR][1000 genomes]
rs7578373	1.00[AMR][1000 genomes]
rs7603259	1.00[AMR][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	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39685200-39705000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:39688600-39703400	Weak transcription	Liver	Liver
3	chr2:39696200-39705000	Weak transcription	Aorta	Aorta
4	chr2:39696600-39711600	Weak transcription	Fetal Brain Female	brain
5	chr2:39697200-39704200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:39697200-39706800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:39697200-39707400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:39697200-39708600	Weak transcription	Stomach Mucosa	stomach
9	chr2:39697200-39709000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:39697200-39711200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:39697200-39711400	Weak transcription	Brain Angular Gyrus	brain
12	chr2:39697200-39711800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:39697200-39713200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:39697400-39700600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:39697400-39700800	Weak transcription	Fetal Intestine Small	intestine
16	chr2:39697400-39701400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr2:39697400-39701800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr2:39697400-39702800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:39697400-39703000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:39697400-39703200	Weak transcription	Left Ventricle	heart
21	chr2:39697400-39703600	Weak transcription	Fetal Intestine Large	intestine
22	chr2:39697400-39703800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:39697400-39704600	Weak transcription	Psoas Muscle	Psoas
24	chr2:39697400-39704800	Weak transcription	Placenta	Placenta
25	chr2:39697400-39704800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr2:39697400-39704800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:39697400-39705000	Weak transcription	Esophagus	oesophagus
28	chr2:39697400-39705000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:39697400-39705200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:39697400-39705200	Weak transcription	Ovary	ovary
31	chr2:39697400-39706600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:39697400-39708600	Weak transcription	HSMM	muscle
33	chr2:39697400-39710400	Weak transcription	K562	blood
34	chr2:39697400-39710800	Weak transcription	Fetal Lung	lung
35	chr2:39697400-39711000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:39697400-39711200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:39697400-39715400	Weak transcription	Pancreas	Pancrea
38	chr2:39697400-39722000	Weak transcription	Fetal Stomach	stomach
39	chr2:39697400-39722000	Weak transcription	Right Ventricle	heart
40	chr2:39697400-39724200	Weak transcription	Gastric	stomach
41	chr2:39697600-39714600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:39697600-39714600	Weak transcription	Fetal Kidney	kidney
43	chr2:39697800-39701000	Weak transcription	HepG2	liver
44	chr2:39697800-39703600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:39698000-39700200	Weak transcription	HMEC	breast
46	chr2:39698000-39702600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:39698000-39704400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:39698000-39708200	Weak transcription	HUVEC	blood vessel
49	chr2:39698000-39708400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr2:39698000-39708600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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