Variant report

Variant	rs585302
Chromosome Location	chr5:43034142-43034143
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43034026..43036831-chr5:43037498..43040104,5	MCF-7	breast:
2	chr5:43015314..43020034-chr5:43032196..43035172,5	MCF-7	breast:
3	chr5:43024225..43027639-chr5:43033975..43036127,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF131-7	chr5:43033818-43034737	ENSG00000272382.1

Variant related genes	Relation type
ENSG00000177738	Chromatin interaction
ENSG00000251131	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1001717	0.91[JPT][hapmap]
rs10051990	0.80[EUR][1000 genomes]
rs10052644	0.80[EUR][1000 genomes]
rs10054331	0.80[EUR][1000 genomes]
rs10057416	0.92[EUR][1000 genomes]
rs10064089	0.83[JPT][hapmap]
rs10077219	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12110284	1.00[CEU][hapmap]
rs12653864	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12654798	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12657546	0.88[ASN][1000 genomes]
rs12659721	0.91[JPT][hapmap]
rs13163892	0.91[JPT][hapmap]
rs13164183	0.91[JPT][hapmap]
rs13171253	0.85[CHD][hapmap];0.91[JPT][hapmap]
rs13357786	0.80[EUR][1000 genomes]
rs13357845	1.00[CEU][hapmap];0.83[LWK][hapmap];0.90[TSI][hapmap];0.93[YRI][hapmap];0.96[EUR][1000 genomes]
rs16872890	1.00[CEU][hapmap]
rs16873177	0.91[JPT][hapmap]
rs17242731	0.91[JPT][hapmap]
rs17242995	0.90[JPT][hapmap]
rs17243023	0.89[CHD][hapmap];0.91[JPT][hapmap]
rs17243086	0.91[JPT][hapmap]
rs17243165	0.90[JPT][hapmap]
rs17302596	0.91[JPT][hapmap]
rs17302931	0.81[JPT][hapmap]
rs186322	0.90[CHD][hapmap];0.91[JPT][hapmap]
rs2085140	0.84[EUR][1000 genomes]
rs2291632	0.85[CHD][hapmap];0.90[JPT][hapmap]
rs28490330	0.96[EUR][1000 genomes]
rs28520523	0.84[EUR][1000 genomes]
rs28609175	0.96[EUR][1000 genomes]
rs309946	1.00[CEU][hapmap]
rs35397154	0.85[CHD][hapmap];0.91[JPT][hapmap]
rs3752831	0.85[CHD][hapmap];0.91[JPT][hapmap]
rs3752832	0.90[JPT][hapmap]
rs3797306	0.85[CHD][hapmap];0.91[JPT][hapmap]
rs3797307	0.85[CHD][hapmap];0.91[JPT][hapmap]
rs3797308	0.91[JPT][hapmap]
rs3797309	0.85[CHD][hapmap];0.91[JPT][hapmap]
rs56962140	0.84[EUR][1000 genomes]
rs58980582	0.80[EUR][1000 genomes]
rs60859843	0.84[EUR][1000 genomes]
rs6451656	0.88[ASW][hapmap]
rs6451664	1.00[CEU][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs6451666	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs6451670	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs66521413	0.81[ASN][1000 genomes]
rs673855	1.00[CEU][hapmap];0.89[LWK][hapmap];0.90[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6858989	0.80[EUR][1000 genomes]
rs6859319	0.84[EUR][1000 genomes]
rs6867941	0.84[EUR][1000 genomes]
rs6869034	1.00[CEU][hapmap]
rs6886261	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6890021	0.84[EUR][1000 genomes]
rs6895961	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs6898323	1.00[CEU][hapmap];0.90[YRI][hapmap];0.84[EUR][1000 genomes]
rs73090747	0.84[EUR][1000 genomes]
rs7720810	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7721545	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs7725727	0.84[EUR][1000 genomes]
rs7728625	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7730865	0.84[EUR][1000 genomes]
rs7735821	0.88[EUR][1000 genomes]
rs9292865	0.80[EUR][1000 genomes]
rs936071	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	nsv1029288	chr5:42928085-43047323	Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	120 gene(s)	inside rSNPs	diseases
8	nsv968169	chr5:42956713-43043472	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	116 gene(s)	inside rSNPs	diseases
9	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
10	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
11	nsv980788	chr5:43034141-43034734	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43020200-43034800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:43020800-43034200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:43020800-43034400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:43020800-43037400	Weak transcription	HSMM	muscle
5	chr5:43020800-43038400	Weak transcription	Spleen	Spleen
6	chr5:43021200-43038600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:43021400-43034400	Weak transcription	Primary B cells from cord blood	blood
8	chr5:43021600-43034200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:43021600-43034400	Weak transcription	NHDF-Ad	bronchial
10	chr5:43021600-43034600	Weak transcription	Hela-S3	cervix
11	chr5:43021800-43034400	Weak transcription	Dnd41	blood
12	chr5:43021800-43034600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr5:43022000-43036400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr5:43028400-43034400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:43029400-43034200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr5:43029400-43034200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:43029400-43034400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:43029400-43034400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:43029400-43034600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:43029400-43037600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:43029600-43034400	Weak transcription	Primary T cells from cord blood	blood
22	chr5:43029800-43034600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:43029800-43034600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr5:43030000-43034800	Weak transcription	GM12878-XiMat	blood
25	chr5:43030600-43034800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:43031200-43034800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr5:43031400-43034600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr5:43033400-43034200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:43033600-43035400	Flanking Active TSS	HUVEC	blood vessel
30	chr5:43033800-43034200	Enhancers	Placenta	Placenta
31	chr5:43033800-43034400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:43033800-43034400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:43033800-43034600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr5:43033800-43034600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
35	chr5:43033800-43034600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:43033800-43034600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
37	chr5:43033800-43034600	Active TSS	NHLF	lung
38	chr5:43033800-43035200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:43033800-43035200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:43033800-43035400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:43033800-43035400	Flanking Active TSS	NH-A	brain
42	chr5:43034000-43034200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:43034000-43034200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:43034000-43034200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:43034000-43034200	Flanking Active TSS	Esophagus	oesophagus
46	chr5:43034000-43034200	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr5:43034000-43034200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
48	chr5:43034000-43034200	ZNF genes & repeats	Thymus	Thymus
49	chr5:43034000-43034400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:43034000-43034400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon

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