Variant report

Variant	rs7595748
Chromosome Location	chr2:234193186-234193187
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	chr2:234190427..234194306-chr2:234194807..234197330,3	MCF-7	breast:
2	chr2:234193121..234195038-chr2:234197728..234199458,2	K562	blood:

Variant related genes	Relation type
ENSG00000251791	Chromatin interaction
ENSG00000085978	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1045095	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10929033	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11894529	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13005285	0.86[ASN][1000 genomes]
rs1816753	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2241876	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2241877	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2289475	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3749079	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3792110	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4663136	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4663429	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6431259	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6431262	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6431270	0.85[ASN][1000 genomes]
rs6431655	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6861	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7587633	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];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	nsv584699	chr2:234182240-234255547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234162200-234205200	Strong transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:234162200-234205200	Strong transcription	Fetal Muscle Trunk	muscle
3	chr2:234162400-234196400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:234162400-234205200	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr2:234162400-234205400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:234162600-234205000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:234162600-234205200	Strong transcription	Fetal Muscle Leg	muscle
8	chr2:234162800-234194000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:234162800-234197000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:234162800-234205600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:234163200-234206000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:234164200-234205400	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:234164200-234205400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:234164400-234196800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:234164400-234197200	Strong transcription	Adipose Nuclei	Adipose
16	chr2:234164600-234206000	Strong transcription	HepG2	liver
17	chr2:234164800-234195800	Strong transcription	Fetal Intestine Large	intestine
18	chr2:234165000-234206000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:234165200-234205400	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:234166800-234206000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:234169400-234197200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:234172200-234204800	Strong transcription	Placenta	Placenta
23	chr2:234174000-234196000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:234176800-234207800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:234177000-234206000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:234177200-234205400	Strong transcription	Dnd41	blood
27	chr2:234177800-234197200	Strong transcription	Left Ventricle	heart
28	chr2:234178000-234194000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:234178000-234196400	Strong transcription	Brain Anterior Caudate	brain
30	chr2:234178200-234194000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:234178400-234205200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:234179000-234206200	Strong transcription	Fetal Thymus	thymus
33	chr2:234179200-234205600	Strong transcription	Fetal Brain Female	brain
34	chr2:234179600-234204000	Strong transcription	HUVEC	blood vessel
35	chr2:234179600-234205400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:234179600-234205400	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:234179600-234205600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:234179800-234205200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr2:234180800-234206400	Strong transcription	Thymus	Thymus
40	chr2:234181000-234205200	Strong transcription	Liver	Liver
41	chr2:234181400-234216400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr2:234182400-234206000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:234183000-234204400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:234183200-234197400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:234184200-234197400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr2:234186800-234198200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:234187200-234198200	Weak transcription	Fetal Heart	heart
48	chr2:234187400-234198000	Weak transcription	Fetal Kidney	kidney
49	chr2:234187800-234193600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:234189200-234195200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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