Variant report

Variant	rs2493643
Chromosome Location	chr1:93990329-93990330
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93981493..93983941-chr1:93989441..93991308,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1863500	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs237424	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap]
rs237426	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs237428	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs237429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.87[YRI][hapmap]
rs2449377	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2493642	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2554841	0.89[ASN][1000 genomes]
rs2624438	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs2818968	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs57438388	0.89[ASN][1000 genomes]
rs58430978	0.89[ASN][1000 genomes]
rs59039419	0.89[ASN][1000 genomes]
rs60717381	0.89[ASN][1000 genomes]
rs6541351	1.00[CHD][hapmap]
rs72961373	0.89[ASN][1000 genomes]
rs72961379	0.89[ASN][1000 genomes]
rs72961386	0.89[ASN][1000 genomes]
rs72961389	0.89[ASN][1000 genomes]
rs7547495	0.89[ASN][1000 genomes]
rs7554661	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[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	nsv1011853	chr1:93966450-94039005	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93958000-93997200	Weak transcription	HSMMtube	muscle
2	chr1:93958800-93991800	Weak transcription	Gastric	stomach
3	chr1:93964600-94015200	Weak transcription	Fetal Brain Male	brain
4	chr1:93965000-94013200	Weak transcription	Adipose Nuclei	Adipose
5	chr1:93965000-94017400	Weak transcription	Stomach Mucosa	stomach
6	chr1:93972200-93993800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:93973200-94016800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:93973400-94032000	Weak transcription	Esophagus	oesophagus
9	chr1:93975000-93996800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:93975200-93996800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:93975200-93997000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:93975400-93991800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:93975400-93995200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:93975400-93996000	Weak transcription	Fetal Lung	lung
15	chr1:93975400-93996800	Weak transcription	Brain Germinal Matrix	brain
16	chr1:93975400-93996800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:93975400-93997000	Weak transcription	Fetal Stomach	stomach
18	chr1:93975400-93997200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:93975400-93997200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:93975400-93997400	Weak transcription	Fetal Brain Female	brain
21	chr1:93975400-94006400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:93980000-93997000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:93984000-93997800	Weak transcription	Aorta	Aorta
24	chr1:93984200-94017400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:93984800-94016000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:93985000-93991800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:93985000-93996400	Weak transcription	A549	lung
28	chr1:93985200-93998400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:93985200-94012000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:93985600-93990800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:93985600-93991600	Weak transcription	Fetal Intestine Large	intestine
32	chr1:93985600-93993800	Weak transcription	K562	blood
33	chr1:93985600-93996200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:93985600-94012000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:93985600-94014200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:93985600-94014200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:93985600-94017600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:93985800-93990800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:93985800-93991200	Weak transcription	HMEC	breast
40	chr1:93985800-93996600	Weak transcription	NH-A	brain
41	chr1:93985800-93997000	Weak transcription	Fetal Intestine Small	intestine
42	chr1:93985800-94015200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:93985800-94017800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:93986000-93991400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:93986000-94003800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:93986000-94013600	Weak transcription	Hela-S3	cervix
47	chr1:93986000-94017600	Weak transcription	NHEK	skin
48	chr1:93986200-93997000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:93986200-94004400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:93986600-94006600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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