Variant report

Variant	rs4017737
Chromosome Location	chr1:153512347-153512348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:153510801..153512442-chr1:153538741..153540863,2	MCF-7	breast:
2	chr1:153504209..153505838-chr1:153511280..153513163,2	K562	blood:
3	chr1:153510989..153512909-chr1:153598387..153600995,3	K562	blood:
4	chr1:153510930..153512480-chr1:153598617..153601303,2	MCF-7	breast:
5	chr1:153511330..153514182-chr1:153601360..153604176,2	K562	blood:
6	chr1:153509922..153512486-chr1:153642550..153644597,2	K562	blood:
7	chr1:153511083..153513930-chr1:153515986..153517623,2	K562	blood:

Variant related genes	Relation type
ENSG00000196154	Chromatin interaction
ENSG00000196754	Chromatin interaction
ENSG00000143621	Chromatin interaction
ENSG00000189171	Chromatin interaction
ENSG00000160678	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs16835393	0.92[CEU][hapmap]
rs17695220	0.92[CEU][hapmap];0.86[GIH][hapmap];0.83[AMR][1000 genomes]
rs1810765	1.00[JPT][hapmap]
rs1887039	0.92[CEU][hapmap];0.86[GIH][hapmap]
rs2094217	0.82[ASN][1000 genomes]
rs2094737	0.82[ASN][1000 genomes]
rs2094738	0.82[ASN][1000 genomes]
rs2248745	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2262587	0.82[ASN][1000 genomes]
rs2339696	0.83[AMR][1000 genomes]
rs2480695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2480696	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28427870	0.93[ASN][1000 genomes]
rs28464843	0.86[AMR][1000 genomes]
rs28483109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762262	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4272569	0.92[CEU][hapmap];0.86[GIH][hapmap];0.83[AMR][1000 genomes]
rs4430277	0.92[CEU][hapmap];0.86[GIH][hapmap]
rs477339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845351	0.92[CEU][hapmap];0.86[GIH][hapmap]
rs4845352	0.92[CEU][hapmap]
rs4845552	0.86[GIH][hapmap]
rs4845554	0.92[CEU][hapmap]
rs532652	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs550597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs552446	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585215	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587743	0.92[CEU][hapmap];0.86[GIH][hapmap];0.83[AMR][1000 genomes]
rs659403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6659755	0.83[AMR][1000 genomes]
rs6684970	0.92[CEU][hapmap];0.86[GIH][hapmap]
rs7518306	0.92[CEU][hapmap]
rs7520093	0.86[AMR][1000 genomes]
rs7534343	0.86[AMR][1000 genomes]
rs7534347	0.86[AMR][1000 genomes]
rs9426945	0.82[ASN][1000 genomes]
rs9427239	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9427287	0.92[AMR][1000 genomes];0.82[ASN][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	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
5	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153508800-153512600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:153509200-153512600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:153509200-153512600	Weak transcription	Small Intestine	intestine
4	chr1:153509200-153512800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:153509200-153514000	Enhancers	HMEC	breast
6	chr1:153509200-153515400	Weak transcription	Aorta	Aorta
7	chr1:153509200-153515600	Weak transcription	Fetal Kidney	kidney
8	chr1:153509200-153516800	Enhancers	Fetal Thymus	thymus
9	chr1:153509200-153517400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:153509400-153512800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:153509400-153513000	Weak transcription	GM12878-XiMat	blood
12	chr1:153509400-153513000	Weak transcription	Osteobl	bone
13	chr1:153509400-153513200	Weak transcription	Gastric	stomach
14	chr1:153509400-153515000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:153509400-153515200	Enhancers	NHEK	skin
16	chr1:153509400-153516800	Weak transcription	Right Atrium	heart
17	chr1:153509400-153517000	Weak transcription	HUVEC	blood vessel
18	chr1:153509400-153527600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:153509600-153512400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:153509600-153512600	Weak transcription	HSMMtube	muscle
21	chr1:153509600-153515400	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:153509600-153515400	Weak transcription	Left Ventricle	heart
23	chr1:153509600-153515400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:153509600-153515600	Weak transcription	Fetal Stomach	stomach
25	chr1:153509600-153517000	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:153509800-153512400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:153509800-153512400	Weak transcription	Spleen	Spleen
28	chr1:153509800-153512600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:153509800-153512600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:153509800-153512800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:153509800-153513000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:153509800-153514800	Weak transcription	Lung	lung
33	chr1:153509800-153515800	Weak transcription	Fetal Heart	heart
34	chr1:153509800-153515800	Weak transcription	Right Ventricle	heart
35	chr1:153510000-153512400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr1:153510000-153512400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:153510000-153513600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:153510600-153514800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:153510800-153512800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:153511000-153512400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr1:153511000-153512600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr1:153511000-153512600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:153511200-153512400	Weak transcription	Adipose Nuclei	Adipose
44	chr1:153511200-153512400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:153511200-153512600	Enhancers	HepG2	liver
46	chr1:153511200-153512800	Weak transcription	Placenta	Placenta
47	chr1:153511200-153513000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr1:153511200-153513400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:153511200-153514200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr1:153511200-153514600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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