Variant report

Variant	rs1951704
Chromosome Location	chr4:74571970-74571971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:74571713..74573594-chr4:74589343..74591305,2	K562	blood:
2	chr4:74571666..74575174-chr4:74576525..74580241,3	K562	blood:
3	chr4:74558633..74562298-chr4:74570528..74572669,3	MCF-7	breast:
4	chr4:74548585..74551184-chr4:74569612..74572509,2	MCF-7	breast:
5	chr4:74563931..74567096-chr4:74570167..74572895,3	K562	blood:
6	chr4:74571202..74573286-chr4:75023771..75025563,2	K562	blood:
7	chr4:74570843..74573608-chr4:74593259..74594924,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASSF6-1	chr4:74571778-74572292	NONHSAT096865

No data

Variant related genes	Relation type
ENSG00000163738	Chromatin interaction
ENSG00000269559	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10025373	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10029200	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10938089	0.96[ASN][1000 genomes]
rs10938091	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11722921	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11938646	0.96[ASN][1000 genomes]
rs1247605	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247607	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247608	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247611	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247620	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247633	0.96[ASN][1000 genomes]
rs1247634	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1247635	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1247639	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247687	0.98[ASN][1000 genomes]
rs1247689	0.95[ASN][1000 genomes]
rs12508451	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1261935	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12642878	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12643076	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12643148	0.98[ASN][1000 genomes]
rs12646031	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12649614	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1269764	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1269766	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1358594	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1406498	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1528910	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1528912	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528913	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1729722	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1745246	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1951702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951703	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs1951705	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs2091587	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2141467	0.98[ASN][1000 genomes]
rs2141468	0.96[ASN][1000 genomes]
rs2178291	0.98[ASN][1000 genomes]
rs2367273	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2886918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3796679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4127802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4259030	0.95[ASN][1000 genomes]
rs4568212	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4637366	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4694633	0.98[ASN][1000 genomes]
rs56785010	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61101665	0.98[ASN][1000 genomes]
rs6446950	0.87[ASN][1000 genomes]
rs6446951	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6446953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6446954	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6818711	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6836038	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857472	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs720702	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72865497	0.98[ASN][1000 genomes]
rs72865502	0.98[ASN][1000 genomes]
rs7655660	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7656501	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7656608	0.96[ASN][1000 genomes]
rs7657356	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7657358	0.98[ASN][1000 genomes]
rs7660448	1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs7660923	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7665606	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7678280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7678307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7681924	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7681932	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7682745	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7683759	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7689702	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs942051	0.98[ASN][1000 genomes]
rs9991585	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1005231	chr4:74555497-74680079	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74566800-74574600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:74566800-74575400	Enhancers	HMEC	breast
3	chr4:74567400-74572000	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr4:74567400-74572200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr4:74567800-74574000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:74568000-74573800	Enhancers	NHEK	skin
7	chr4:74568000-74574400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:74568200-74574800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:74568200-74574800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:74568400-74572200	Enhancers	HSMM	muscle
11	chr4:74568400-74574600	Enhancers	NHLF	lung
12	chr4:74568600-74572000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:74568800-74572000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:74569200-74572200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:74569200-74576400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr4:74569600-74572200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:74569600-74572400	Enhancers	HSMMtube	muscle
18	chr4:74569800-74576200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:74570000-74572200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr4:74570000-74575200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:74570400-74573800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:74570400-74573800	Enhancers	Hela-S3	cervix
23	chr4:74570400-74574000	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:74570600-74572600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:74570600-74574000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr4:74570600-74578600	Enhancers	K562	blood
27	chr4:74570600-74581400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:74570800-74572000	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr4:74570800-74572400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:74570800-74573200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr4:74571000-74572200	Enhancers	NH-A	brain
32	chr4:74571000-74573000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr4:74571000-74573000	Enhancers	A549	lung
34	chr4:74571000-74573200	Weak transcription	Aorta	Aorta
35	chr4:74571000-74573400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr4:74571000-74573400	Weak transcription	Adipose Nuclei	Adipose
37	chr4:74571000-74573400	Weak transcription	Placenta	Placenta
38	chr4:74571000-74573400	Weak transcription	Stomach Mucosa	stomach
39	chr4:74571000-74573600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:74571000-74574200	Weak transcription	Pancreas	Pancrea
41	chr4:74571200-74572200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr4:74571200-74573600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:74571400-74573200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:74571400-74573400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr4:74571400-74573400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr4:74571400-74573400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:74571400-74573800	Enhancers	HUVEC	blood vessel
48	chr4:74571400-74574000	Weak transcription	Primary B cells from cord blood	blood
49	chr4:74571400-74574600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:74571400-74574600	Enhancers	NHDF-Ad	bronchial

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