Variant report

Variant	rs74051544
Chromosome Location	chr1:9606840-9606841
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9605132..9607144-chr1:9615539..9618272,2	K562	blood:
2	chr1:9605011..9608297-chr1:9610282..9613172,3	MCF-7	breast:
3	chr1:9606422..9606955-chr1:9632666..9633222,2	MCF-7	breast:
4	chr1:9599398..9600961-chr1:9605369..9607095,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171612	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11121428	1.00[EUR][1000 genomes]
rs11804156	0.91[AFR][1000 genomes]
rs11811820	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12066330	1.00[EUR][1000 genomes]
rs55913306	1.00[EUR][1000 genomes]
rs56133240	1.00[EUR][1000 genomes]
rs57585081	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60678622	1.00[EUR][1000 genomes]
rs61547143	1.00[EUR][1000 genomes]
rs6701659	1.00[EUR][1000 genomes]
rs72862732	1.00[EUR][1000 genomes]
rs72862734	1.00[EUR][1000 genomes]
rs7354926	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74051531	1.00[EUR][1000 genomes]
rs74051533	1.00[EUR][1000 genomes]
rs74051540	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74051551	0.91[AFR][1000 genomes]
rs74051552	0.91[AFR][1000 genomes]
rs74051646	1.00[EUR][1000 genomes]
rs74051648	1.00[EUR][1000 genomes]
rs74051651	1.00[EUR][1000 genomes]
rs74051652	1.00[EUR][1000 genomes]
rs9662928	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931984	chr1:8879337-9694749	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	570 gene(s)	inside rSNPs	diseases
2	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
3	nsv1013224	chr1:9441040-9699768	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv464283	chr1:9495571-9677853	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv545363	chr1:9495571-9677853	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9600600-9608800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:9600600-9608800	Weak transcription	Gastric	stomach
3	chr1:9600600-9608800	Weak transcription	Spleen	Spleen
4	chr1:9600600-9609000	Weak transcription	Esophagus	oesophagus
5	chr1:9600600-9609000	Weak transcription	Pancreas	Pancrea
6	chr1:9600600-9613800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:9600600-9615400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:9600600-9615600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:9600800-9608000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:9600800-9611800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:9600800-9614000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:9600800-9614000	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:9600800-9615400	Weak transcription	HSMM	muscle
14	chr1:9600800-9615600	Weak transcription	Ovary	ovary
15	chr1:9600800-9619200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:9601000-9612000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:9601000-9613200	Weak transcription	Primary T cells from cord blood	blood
18	chr1:9601000-9613600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:9601000-9613800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr1:9601000-9616000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:9601000-9616200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:9601000-9617800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:9601000-9618000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:9601000-9621200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:9601000-9621400	Weak transcription	A549	lung
26	chr1:9601200-9608600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:9601200-9608800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:9601200-9613600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:9601200-9615400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:9601200-9615600	Weak transcription	Primary B cells from cord blood	blood
31	chr1:9601200-9615800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr1:9601200-9616000	Weak transcription	HMEC	breast
33	chr1:9601200-9617200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:9601200-9617600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:9602400-9608800	Weak transcription	Lung	lung
36	chr1:9602400-9614000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:9602400-9615200	Weak transcription	Fetal Thymus	thymus
38	chr1:9602600-9611200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:9602600-9611200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:9602600-9613600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:9602600-9613800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:9602600-9614800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:9602600-9614800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:9602600-9615000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:9602600-9615400	Weak transcription	Brain Angular Gyrus	brain
46	chr1:9602600-9615400	Weak transcription	Brain Anterior Caudate	brain
47	chr1:9602600-9615400	Weak transcription	Thymus	Thymus
48	chr1:9602600-9615600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr1:9602600-9615800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:9602600-9616000	Weak transcription	Fetal Kidney	kidney

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