Variant report

Variant	rs7514007
Chromosome Location	chr1:78520983-78520984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78467898..78473745-chr1:78517606..78523860,12	K562	blood:
2	chr1:78475214..78476782-chr1:78520610..78522238,2	K562	blood:
3	chr1:78520206..78525011-chr1:78526646..78528908,4	K562	blood:
4	chr1:78467898..78469708-chr1:78520081..78522686,2	K562	blood:

Variant related genes	Relation type
ENSG00000273338	Chromatin interaction
ENSG00000162616	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1001070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1001103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1001104	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10437022	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10873960	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10873963	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11162400	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11162403	0.88[AMR][1000 genomes]
rs1166697	0.85[AMR][1000 genomes]
rs1166701	0.82[AMR][1000 genomes]
rs1166702	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes]
rs1166707	0.81[AMR][1000 genomes]
rs1166709	1.00[YRI][hapmap]
rs11805735	0.82[AMR][1000 genomes]
rs11807240	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes]
rs12146104	0.81[AMR][1000 genomes]
rs12405212	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes]
rs12409561	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[AMR][1000 genomes]
rs12723748	0.80[AMR][1000 genomes]
rs1335481	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs1536160	0.82[AMR][1000 genomes]
rs1555798	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1616949	0.82[AMR][1000 genomes]
rs17382996	1.00[CEU][hapmap]
rs17383213	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17387365	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1855704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1971368	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2136682	0.87[AMR][1000 genomes]
rs2274257	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2296453	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs3767028	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes]
rs4370803	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4372306	0.88[AMR][1000 genomes]
rs4631748	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4949828	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes]
rs4949829	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes]
rs5001389	1.00[ASN][1000 genomes]
rs504388	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568497	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs57421725	0.82[AMR][1000 genomes]
rs591448	0.82[YRI][hapmap]
rs628451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs633580	0.83[YRI][hapmap]
rs638335	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6424640	0.87[AMR][1000 genomes]
rs6424650	0.91[AMR][1000 genomes]
rs6424660	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6424664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6424668	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs661038	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs662330	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs664818	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6656888	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes]
rs6677890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684579	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs750720	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes]
rs7538210	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs9324166	0.85[AMR][1000 genomes]
rs9659938	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[AMR][1000 genomes]
rs9730688	0.93[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv870608	chr1:78520822-78594286	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78513000-78521800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:78513600-78521200	Weak transcription	Stomach Mucosa	stomach
3	chr1:78515400-78521200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:78515400-78534200	Weak transcription	HepG2	liver
5	chr1:78517400-78522000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:78517800-78521200	Weak transcription	Fetal Intestine Small	intestine
7	chr1:78519000-78521000	Weak transcription	Adipose Nuclei	Adipose
8	chr1:78519000-78521400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:78519000-78536000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:78519200-78521000	Weak transcription	Fetal Intestine Large	intestine
11	chr1:78519200-78527000	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:78519400-78521200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:78519400-78521200	Weak transcription	Small Intestine	intestine
14	chr1:78519400-78521200	Weak transcription	K562	blood
15	chr1:78519400-78521400	Weak transcription	Placenta	Placenta
16	chr1:78519400-78521400	Weak transcription	Right Atrium	heart
17	chr1:78519400-78521400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:78519800-78526800	Weak transcription	Psoas Muscle	Psoas
19	chr1:78520000-78521000	Enhancers	HSMM	muscle
20	chr1:78520000-78521400	Enhancers	HUVEC	blood vessel
21	chr1:78520400-78521400	Enhancers	Liver	Liver
22	chr1:78520600-78522000	Enhancers	Pancreas	Pancrea
23	chr1:78520600-78522000	Enhancers	Spleen	Spleen
24	chr1:78520800-78521800	Enhancers	Right Ventricle	heart
25	chr1:78520800-78522000	Enhancers	Left Ventricle	heart
26	chr1:78520800-78523800	Weak transcription	Osteobl	bone
27	chr1:78520800-78524000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:78520800-78526600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:78520800-78526800	Weak transcription	HSMMtube	muscle

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