Variant report

Variant	rs7600743
Chromosome Location	chr2:234189359-234189360
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234187699..234192126-chr2:234193639..234199355,9	MCF-7	breast:
2	chr2:234180075..234182326-chr2:234188683..234190200,2	MCF-7	breast:
3	chr2:234182703..234185905-chr2:234186252..234191203,5	K562	blood:
4	chr2:234180434..234181066-chr2:234188811..234189377,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252010	Chromatin interaction
ENSG00000251791	Chromatin interaction
ENSG00000085978	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10803619	0.82[ASW][hapmap];0.86[GIH][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10929032	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11679064	1.00[ASW][hapmap];0.84[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11682236	0.82[ASW][hapmap];0.86[GIH][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11682898	0.86[GIH][hapmap];1.00[MEX][hapmap]
rs11890330	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11890449	1.00[ASW][hapmap];0.86[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2278610	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2289476	0.86[GIH][hapmap]
rs3828308	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55754152	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56242862	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6431252	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6719241	1.00[YRI][hapmap]
rs6748547	1.00[ASW][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6753686	0.82[EUR][1000 genomes]
rs72976321	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72976324	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72976353	0.84[AMR][1000 genomes]
rs72976366	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7578402	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7581670	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7583380	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7585217	0.86[GIH][hapmap]
rs7594365	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][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	chr2:234162400-234192000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:234162400-234196400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:234162400-234205200	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr2:234162400-234205400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:234162600-234192400	Strong transcription	Osteobl	bone
8	chr2:234162600-234205000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr2:234162600-234205200	Strong transcription	Fetal Muscle Leg	muscle
10	chr2:234162800-234194000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:234162800-234197000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:234162800-234205600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:234163000-234192200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:234163000-234192200	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr2:234163200-234206000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:234164200-234205400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:234164200-234205400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:234164400-234192000	Strong transcription	NH-A	brain
19	chr2:234164400-234196800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:234164400-234197200	Strong transcription	Adipose Nuclei	Adipose
21	chr2:234164600-234190400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:234164600-234192000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:234164600-234192200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:234164600-234206000	Strong transcription	HepG2	liver
25	chr2:234164800-234195800	Strong transcription	Fetal Intestine Large	intestine
26	chr2:234165000-234192200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:234165000-234206000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:234165200-234205400	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:234165400-234192000	Strong transcription	Brain Cingulate Gyrus	brain
30	chr2:234166200-234191800	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr2:234166800-234206000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:234169400-234197200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:234169800-234192000	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:234171200-234191800	Strong transcription	HSMM	muscle
35	chr2:234172200-234204800	Strong transcription	Placenta	Placenta
36	chr2:234174000-234196000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:234176800-234207800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:234177000-234206000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:234177200-234192000	Strong transcription	HMEC	breast
40	chr2:234177200-234205400	Strong transcription	Dnd41	blood
41	chr2:234177600-234192000	Strong transcription	GM12878-XiMat	blood
42	chr2:234177800-234192200	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr2:234177800-234197200	Strong transcription	Left Ventricle	heart
44	chr2:234178000-234194000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:234178000-234196400	Strong transcription	Brain Anterior Caudate	brain
46	chr2:234178200-234194000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:234178400-234205200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:234179000-234191600	Strong transcription	HSMMtube	muscle
49	chr2:234179000-234206200	Strong transcription	Fetal Thymus	thymus
50	chr2:234179200-234191200	Strong transcription	NHEK	skin

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