Variant report

Variant	rs3754754
Chromosome Location	chr2:173858411-173858412
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173849631..173852622-chr2:173858056..173860174,2	K562	blood:
2	chr2:173849142..173852598-chr2:173855356..173861233,5	MCF-7	breast:
3	chr2:173853861..173856842-chr2:173857808..173860672,3	MCF-7	breast:
4	chr2:173849354..173852622-chr2:173856420..173860174,4	K562	blood:
5	chr2:173843217..173845112-chr2:173857829..173859868,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12612593	1.00[CEU][hapmap]
rs1530591	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16861137	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3769233	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs3769237	0.86[ASN][1000 genomes]
rs3820842	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4972393	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs72907592	0.86[ASN][1000 genomes]
rs768030	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	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173833800-173859000	Weak transcription	Fetal Intestine Small	intestine
2	chr2:173833800-173860800	Weak transcription	Right Ventricle	heart
3	chr2:173835800-173886800	Weak transcription	Lung	lung
4	chr2:173843200-173861400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:173849800-173861200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:173850400-173864600	Weak transcription	Psoas Muscle	Psoas
7	chr2:173851000-173859000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:173851000-173860400	Weak transcription	Fetal Heart	heart
9	chr2:173851000-173861000	Weak transcription	Fetal Kidney	kidney
10	chr2:173851200-173859600	Weak transcription	NHDF-Ad	bronchial
11	chr2:173851200-173860200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:173851200-173860200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:173852400-173868000	Weak transcription	Gastric	stomach
14	chr2:173855200-173858800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:173855800-173858600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:173855800-173860400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:173855800-173860400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:173855800-173863400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:173856000-173885200	Weak transcription	Brain Anterior Caudate	brain
20	chr2:173856200-173859600	Weak transcription	Fetal Stomach	stomach
21	chr2:173856200-173859800	Weak transcription	Adipose Nuclei	Adipose
22	chr2:173856200-173861400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:173856200-173861400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:173856200-173862000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:173856200-173863600	Weak transcription	Brain Germinal Matrix	brain
26	chr2:173856200-173882400	Weak transcription	Left Ventricle	heart
27	chr2:173856200-173892600	Weak transcription	Brain Angular Gyrus	brain
28	chr2:173856400-173860400	Weak transcription	Fetal Lung	lung
29	chr2:173856400-173860600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:173857400-173859200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr2:173857400-173859200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr2:173857400-173861400	Weak transcription	Liver	Liver
33	chr2:173857600-173859400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr2:173857800-173860400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:173858000-173860200	Enhancers	A549	lung
36	chr2:173858000-173862000	Enhancers	HepG2	liver
37	chr2:173858200-173860600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:173858200-173862000	Enhancers	Ovary	ovary
39	chr2:173858400-173859000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:173858400-173859200	Enhancers	Placenta	Placenta
41	chr2:173858400-173862000	Enhancers	HSMMtube	muscle
42	chr2:173858400-173869000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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