Variant report

Variant	rs12699800
Chromosome Location	chr7:16503060-16503061
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	chr7:16497028..16499550-chr7:16501413..16504859,5	K562	blood:
2	chr7:16497680..16499781-chr7:16501198..16505001,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10085439	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10085489	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10085777	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10499469	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10950622	0.82[EUR][1000 genomes]
rs11761180	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763476	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11770398	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12532480	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12699795	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12699796	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12699797	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12699798	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12699799	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12699801	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12699802	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17619106	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2141804	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2293672	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301971	0.82[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.81[JPT][hapmap];0.82[YRI][hapmap];0.88[ASN][1000 genomes]
rs2528472	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2528473	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2704667	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2704668	0.83[EUR][1000 genomes]
rs4506094	0.84[CEU][hapmap]
rs4719466	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4721504	0.92[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56271810	0.88[ASN][1000 genomes]
rs6461257	0.88[ASN][1000 genomes]
rs6950958	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6964287	0.87[ASN][1000 genomes]
rs73074739	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8180829	0.88[ASN][1000 genomes]
rs9791820	0.91[CHB][hapmap];0.91[JPT][hapmap]

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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1034151	chr7:16415497-16578081	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16501000-16504800	Enhancers	Fetal Heart	heart
2	chr7:16501000-16505200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:16501000-16511600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:16501200-16503400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:16501200-16505000	Weak transcription	Gastric	stomach
6	chr7:16501800-16503600	Weak transcription	Fetal Intestine Small	intestine
7	chr7:16502200-16506000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr7:16502400-16503200	Weak transcription	Right Atrium	heart
9	chr7:16502400-16503400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:16502400-16503600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:16502400-16503800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:16502600-16503200	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:16502600-16503600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:16502600-16503600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:16502600-16503600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:16502600-16503600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:16502600-16503800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:16502600-16503800	Weak transcription	Esophagus	oesophagus
19	chr7:16502600-16504200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:16502600-16505000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:16502600-16505000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:16502600-16505000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:16502800-16503200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:16502800-16503800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:16502800-16505000	Active TSS	Fetal Lung	lung
26	chr7:16502800-16506200	Active TSS	Fetal Stomach	stomach
27	chr7:16503000-16503200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:16503000-16503200	Flanking Active TSS	Fetal Brain Male	brain
29	chr7:16503000-16503200	Weak transcription	Fetal Intestine Large	intestine
30	chr7:16503000-16503400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:16503000-16503400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:16503000-16506000	Active TSS	Fetal Kidney	kidney
33	chr7:16503000-16506200	Active TSS	Duodenum Smooth Muscle	Duodenum

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