Variant report

Variant	rs4246610
Chromosome Location	chr2:174134902-174134903
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	chr2:174133324..174136222-chr2:174137926..174139659,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13414400	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1372935	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1442973	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174083400-174136400	Weak transcription	Esophagus	oesophagus
2	chr2:174101600-174136400	Weak transcription	Hela-S3	cervix
3	chr2:174101800-174136200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:174122600-174136400	Weak transcription	Stomach Mucosa	stomach
5	chr2:174123800-174136800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:174126000-174138000	Weak transcription	Psoas Muscle	Psoas
7	chr2:174126400-174138800	Weak transcription	Right Ventricle	heart
8	chr2:174128200-174136200	Weak transcription	HSMMtube	muscle
9	chr2:174130000-174135200	Weak transcription	Fetal Intestine Small	intestine
10	chr2:174130000-174136200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:174130000-174136400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:174130000-174136400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:174130000-174136600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:174130000-174137800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:174130200-174135600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:174131000-174137800	Weak transcription	Brain Germinal Matrix	brain
17	chr2:174131200-174136400	Weak transcription	NHEK	skin
18	chr2:174131200-174139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:174131400-174135200	Weak transcription	Aorta	Aorta
20	chr2:174131400-174135200	Weak transcription	Lung	lung
21	chr2:174131400-174135800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:174131400-174136000	Weak transcription	Pancreas	Pancrea
23	chr2:174131400-174136200	Weak transcription	Gastric	stomach
24	chr2:174131400-174136400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:174131400-174136600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:174131400-174136800	Weak transcription	A549	lung
27	chr2:174131600-174135000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr2:174131600-174136000	Weak transcription	Ovary	ovary
29	chr2:174131600-174136400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:174131600-174136400	Weak transcription	Osteobl	bone
31	chr2:174132000-174135200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:174132000-174136200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:174132000-174136600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:174132800-174135000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:174132800-174136200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:174132800-174136200	Weak transcription	Fetal Intestine Large	intestine
37	chr2:174132800-174136400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:174132800-174136400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:174132800-174136400	Weak transcription	HMEC	breast
40	chr2:174133000-174135000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr2:174133000-174135800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:174133000-174135800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:174133000-174136400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:174133000-174136600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:174133000-174137600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:174133200-174135400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:174133200-174135800	Weak transcription	Adipose Nuclei	Adipose
48	chr2:174133200-174136400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr2:174133200-174137800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:174133400-174136000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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