Variant report

Variant	rs4970975
Chromosome Location	chr1:150743664-150743665
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150742855..150744803-chr1:150749653..150752578,2	MCF-7	breast:
2	chr1:150743215..150744968-chr1:150746292..150748650,2	MCF-7	breast:
3	chr1:150737960..150741233-chr1:150743077..150746063,3	K562	blood:
4	chr1:150741916..150744860-chr1:150749050..150751954,2	K562	blood:
5	chr1:150738126..150741415-chr1:150742001..150744824,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163131	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10305668	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10788793	1.00[AMR][1000 genomes]
rs10788796	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11204732	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13376166	1.00[ASN][1000 genomes]
rs267727	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs267728	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28498299	1.00[ASN][1000 genomes]
rs6587538	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6661777	1.00[ASN][1000 genomes]
rs7526690	1.00[AMR][1000 genomes]
rs7533914	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs796407	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv872417	chr1:150618632-150759979	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1008381	chr1:150721254-150745558	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv437169	chr1:150738197-150816886	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
7	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150737200-150761800	Weak transcription	Spleen	Spleen
2	chr1:150742800-150744200	Enhancers	Fetal Thymus	thymus
3	chr1:150743000-150744200	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr1:150743000-150744400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:150743000-150744800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:150743200-150743800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr1:150743200-150743800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:150743200-150743800	Enhancers	Dnd41	blood
9	chr1:150743200-150744000	Enhancers	Primary B cells from peripheral blood	blood
10	chr1:150743200-150744400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr1:150743200-150744400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:150743200-150744600	Enhancers	Primary T cells from cord blood	blood
13	chr1:150743200-150744600	Enhancers	Primary hematopoietic stem cells	blood
14	chr1:150743200-150744800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:150743400-150744000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:150743400-150744200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr1:150743400-150744200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:150743400-150744200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr1:150743400-150744600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr1:150743600-150744000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:150743600-150744400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr1:150743600-150744400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:150743600-150744400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:150743600-150744600	Enhancers	GM12878-XiMat	blood
25	chr1:150743600-150744800	Weak transcription	Primary B cells from cord blood	blood

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