Variant report

Variant	rs72869688
Chromosome Location	chr1:9736803-9736804
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9730429..9733119-chr1:9735677..9738104,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12059589	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12064486	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090365	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12092982	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7553125	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer 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	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9713200-9744000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:9713200-9747200	Weak transcription	Pancreas	Pancrea
3	chr1:9714000-9739600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:9727200-9741000	Strong transcription	Dnd41	blood
5	chr1:9729600-9746800	Weak transcription	Thymus	Thymus
6	chr1:9730800-9740000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:9731000-9739600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr1:9732200-9737000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:9732400-9741800	Weak transcription	A549	lung
10	chr1:9732600-9743800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:9734400-9741800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:9734600-9743600	Weak transcription	Fetal Thymus	thymus
13	chr1:9735400-9737200	Strong transcription	Primary B cells from cord blood	blood
14	chr1:9735400-9737400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:9735400-9739000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr1:9735400-9742000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
17	chr1:9735600-9737600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:9735600-9741000	Genic enhancers	Primary B cells from peripheral blood	blood
19	chr1:9735600-9744200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:9735800-9737200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:9735800-9744200	Genic enhancers	Primary T cells fromperipheralblood	blood
22	chr1:9736200-9737000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr1:9736200-9737200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr1:9736200-9737200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:9736200-9741200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr1:9736400-9737000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
27	chr1:9736400-9737000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:9736400-9737200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:9736400-9737200	Genic enhancers	Spleen	Spleen
30	chr1:9736400-9737200	Genic enhancers	GM12878-XiMat	blood
31	chr1:9736400-9737800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr1:9736400-9739000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:9736400-9740400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
34	chr1:9736600-9737000	Genic enhancers	Primary T cells from cord blood	blood
35	chr1:9736600-9737200	Enhancers	Lung	lung
36	chr1:9736600-9737400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:9736600-9737400	Enhancers	HepG2	liver
38	chr1:9736600-9737400	Enhancers	K562	blood
39	chr1:9736800-9737200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr1:9736800-9737200	Enhancers	Fetal Muscle Trunk	muscle
41	chr1:9736800-9737400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:9736800-9737400	Enhancers	Right Atrium	heart
43	chr1:9736800-9737600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:9736800-9741000	Weak transcription	Duodenum Mucosa	Duodenum

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