Variant report

Variant	rs6693438
Chromosome Location	chr1:92163174-92163175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92151670..92153207-chr1:92161456..92163644,2	K562	blood:
2	chr1:92160729..92163460-chr1:92181543..92183054,2	K562	blood:
3	chr1:92162419..92166265-chr1:92170255..92173059,5	K562	blood:
4	chr1:92162441..92164446-chr1:92195933..92198118,2	K562	blood:
5	chr1:92161234..92163653-chr1:92164578..92167182,3	K562	blood:
6	chr1:92162419..92165412-chr1:92170320..92173271,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11165262	0.89[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11165300	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11807260	1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11807271	0.94[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17512269	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17879928	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2046736	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60851495	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6662887	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs902	1.00[JPT][hapmap]
rs913059	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1014990	chr1:92084142-92206674	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92147400-92164600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:92149000-92170000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:92149400-92172800	Weak transcription	Esophagus	oesophagus
4	chr1:92149600-92166000	Weak transcription	NHEK	skin
5	chr1:92151200-92164200	Weak transcription	Right Ventricle	heart
6	chr1:92151200-92172800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:92152600-92184200	Strong transcription	HepG2	liver
8	chr1:92152800-92163200	Weak transcription	Fetal Heart	heart
9	chr1:92153000-92197000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:92155400-92178800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:92155600-92178800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:92155800-92171600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:92155800-92191200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:92156000-92163200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:92156000-92163200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:92156000-92172800	Weak transcription	Gastric	stomach
17	chr1:92156200-92172800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:92156200-92177800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:92157800-92163800	Strong transcription	Placenta	Placenta
20	chr1:92159000-92173600	Weak transcription	Fetal Kidney	kidney
21	chr1:92159400-92172800	Weak transcription	Aorta	Aorta
22	chr1:92159400-92173400	Weak transcription	Brain Substantia Nigra	brain
23	chr1:92159800-92164200	Weak transcription	Lung	lung
24	chr1:92159800-92164600	Weak transcription	Fetal Stomach	stomach
25	chr1:92159800-92164800	Weak transcription	Pancreas	Pancrea
26	chr1:92159800-92171800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:92159800-92172800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:92159800-92172800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:92159800-92183800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:92161200-92165200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:92161400-92163400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:92161400-92164000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr1:92161400-92164800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:92161600-92163400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:92161600-92163800	Genic enhancers	NHDF-Ad	bronchial
36	chr1:92161600-92165400	Enhancers	Adipose Nuclei	Adipose
37	chr1:92161800-92164200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:92162000-92163400	Enhancers	Fetal Intestine Large	intestine
39	chr1:92162000-92164800	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr1:92162000-92166800	Weak transcription	Liver	Liver
41	chr1:92162200-92163200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr1:92162200-92164000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr1:92162200-92164000	Enhancers	Fetal Intestine Small	intestine
44	chr1:92162200-92164200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:92162200-92166200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:92162400-92163200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:92162400-92163200	Enhancers	Duodenum Mucosa	Duodenum
48	chr1:92162400-92163200	Genic enhancers	Fetal Muscle Leg	muscle
49	chr1:92162400-92163400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:92162400-92163400	Genic enhancers	Left Ventricle	heart

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