Variant report

Variant	rs10231529
Chromosome Location	chr7:100721337-100721338
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100492126..100493072-chr7:100720609..100721480,6	MCF-7	breast:
2	chr7:100491976..100494948-chr7:100720945..100722621,2	K562	blood:
3	chr7:100718974..100722211-chr7:100727339..100729031,3	MCF-7	breast:
4	chr7:100487624..100489181-chr7:100719587..100722224,2	K562	blood:
5	chr7:100609076..100610054-chr7:100720536..100721508,5	K562	blood:
6	chr7:100721139..100722732-chr7:100723285..100725731,2	MCF-7	breast:
7	chr7:100720993..100722495-chr7:100780421..100782575,2	K562	blood:
8	chr7:100491976..100493981-chr7:100719748..100722445,2	K562	blood:
9	chr7:100720707..100722495-chr7:100781075..100783381,2	K562	blood:
10	chr7:100702600..100703226-chr7:100721074..100721783,2	MCF-7	breast:
11	chr7:100494599..100495240-chr7:100720850..100721501,2	MCF-7	breast:
12	chr7:100397049..100397573-chr7:100720945..100721487,2	K562	blood:
13	chr7:100719512..100722535-chr7:100726943..100728722,3	MCF-7	breast:
14	chr7:100609173..100609897-chr7:100720732..100721459,2	MCF-7	breast:
15	chr7:100492223..100495476-chr7:100718309..100722790,6	MCF-7	breast:
16	chr7:100715859..100718346-chr7:100719880..100722300,3	K562	blood:
17	chr7:100486640..100489016-chr7:100718446..100722500,5	MCF-7	breast:
18	chr7:100493803..100494557-chr7:100720639..100721574,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169871	Chromatin interaction
ENSG00000087085	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000225946	Chromatin interaction
ENSG00000169894	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10230452	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10230583	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10231438	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239965	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10953318	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10953321	1.00[JPT][hapmap]
rs10953322	1.00[JPT][hapmap]
rs11972491	0.91[JPT][hapmap]
rs12334006	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12334261	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12669411	0.81[CHB][hapmap]
rs13221286	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13225064	0.81[CHB][hapmap]
rs13228919	0.81[CHB][hapmap]
rs13244505	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4351359	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4416766	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4571672	0.81[CHB][hapmap]
rs67716725	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73178504	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73404851	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9792109	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv1826021	chr7:100525848-100749246	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1846644	chr7:100525848-100749246	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1822460	chr7:100606044-100749246	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv427796	chr7:100606044-100749246	Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv428181	chr7:100606044-100749246	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv831074	chr7:100606051-100745532	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv1033081	chr7:100669629-100771824	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	esv1811048	chr7:100675933-100730280	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
14	esv1831657	chr7:100675933-100730280	Bivalent/Poised TSS Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
15	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
16	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
17	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100716800-100728400	Weak transcription	Right Atrium	heart
2	chr7:100720600-100721400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:100720600-100721400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:100720600-100721400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:100720600-100721400	Enhancers	Primary B cells from peripheral blood	blood
6	chr7:100720600-100721400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr7:100720600-100721400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr7:100720600-100721400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:100720600-100721400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:100720600-100721400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:100720600-100721400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:100720600-100721600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr7:100720800-100721400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:100720800-100721400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:100720800-100721400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:100720800-100721400	Enhancers	Primary hematopoietic stem cells	blood
17	chr7:100720800-100721800	Enhancers	Primary B cells from cord blood	blood
18	chr7:100721000-100721400	Enhancers	GM12878-XiMat	blood
19	chr7:100721000-100726400	Weak transcription	HepG2	liver
20	chr7:100721000-100727800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr7:100721000-100727800	Weak transcription	K562	blood
22	chr7:100721000-100728000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:100721000-100728000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:100721000-100728000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr7:100721000-100728000	Weak transcription	Adipose Nuclei	Adipose
26	chr7:100721000-100728000	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:100721000-100728000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr7:100721000-100728000	Weak transcription	Brain Substantia Nigra	brain
29	chr7:100721200-100721400	Enhancers	Primary T cells from cord blood	blood
30	chr7:100721200-100728000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:100721200-100728000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:100721200-100728200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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