Variant report

Variant	rs11944517
Chromosome Location	chr4:159060568-159060569
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:159050564..159053243-chr4:159059556..159061367,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11936729	1.00[AMR][1000 genomes]
rs11945640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11946222	1.00[GIH][hapmap];0.93[LWK][hapmap];0.96[MKK][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs17037232	0.80[ASW][hapmap]
rs55788430	1.00[AMR][1000 genomes]
rs56033321	1.00[AMR][1000 genomes]
rs56167625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56754638	1.00[AMR][1000 genomes]
rs57754015	1.00[AMR][1000 genomes]
rs58547264	1.00[AMR][1000 genomes]
rs58624740	1.00[AMR][1000 genomes]
rs59234905	1.00[AMR][1000 genomes]
rs72967842	1.00[AMR][1000 genomes]
rs72971730	1.00[AMR][1000 genomes]
rs73857535	1.00[AMR][1000 genomes]
rs73857540	1.00[AMR][1000 genomes]
rs73857549	1.00[AMR][1000 genomes]
rs73857576	1.00[AMR][1000 genomes]
rs73857581	1.00[AMR][1000 genomes]
rs73857583	1.00[AMR][1000 genomes]
rs73857587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73857590	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73857591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73857593	1.00[AMR][1000 genomes]
rs73857598	1.00[AMR][1000 genomes]
rs7655528	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1030124	chr4:158758675-159251140	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1021067	chr4:158972282-159175475	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:159042800-159083600	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:159044800-159071000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:159044800-159073200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:159047000-159080200	Weak transcription	Right Ventricle	heart
5	chr4:159049200-159070000	Weak transcription	Placenta	Placenta
6	chr4:159051000-159061000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:159051800-159070600	Weak transcription	Fetal Intestine Large	intestine
8	chr4:159051800-159073000	Weak transcription	Fetal Stomach	stomach
9	chr4:159051800-159080400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:159052000-159071400	Weak transcription	Adipose Nuclei	Adipose
11	chr4:159052200-159071400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:159052200-159072800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:159052600-159071200	Weak transcription	Fetal Intestine Small	intestine
14	chr4:159052600-159071400	Weak transcription	HSMMtube	muscle
15	chr4:159052600-159080200	Weak transcription	Left Ventricle	heart
16	chr4:159053800-159060600	Weak transcription	Brain Anterior Caudate	brain
17	chr4:159054200-159063600	Weak transcription	HepG2	liver
18	chr4:159055600-159061800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:159055600-159076200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:159058200-159062600	Enhancers	Fetal Heart	heart
21	chr4:159058200-159064000	Weak transcription	HSMM	muscle
22	chr4:159058600-159061600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr4:159059000-159077800	Weak transcription	Aorta	Aorta
24	chr4:159059200-159060800	Enhancers	Rectal Smooth Muscle	rectum
25	chr4:159059400-159063400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr4:159059400-159071800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr4:159059400-159076600	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:159060200-159060600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:159060200-159060600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr4:159060200-159060600	Active TSS	Stomach Smooth Muscle	stomach
31	chr4:159060200-159060600	Active TSS	HMEC	breast
32	chr4:159060200-159060600	Enhancers	HUVEC	blood vessel
33	chr4:159060200-159061800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:159060400-159060600	Enhancers	Ovary	ovary
35	chr4:159060400-159061200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr4:159060400-159066000	Weak transcription	Brain Substantia Nigra	brain

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