Variant report

Variant	rs1058808
Chromosome Location	chr17:37884037-37884038
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:37882559-37887116	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr17:37878857-37887318	HepG2	liver:	n/a	n/a
3	POLR2A	chr17:37882635-37884542	GM12892	blood:	n/a	n/a
4	POLR2A	chr17:37882599-37884738	K562	blood:	n/a	n/a
5	POLR2A	chr17:37883820-37884828	GM12878	blood:	n/a	n/a
6	POLR2A	chr17:37883878-37884055	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr17:37883562-37884100	HepG2	liver:	n/a	n/a
8	POLR2A	chr17:37883769-37886942	HepG2	liver:	n/a	n/a
9	POLR2A	chr17:37882374-37886907	HepG2	liver:	n/a	n/a
10	POLR2A	chr17:37882642-37884518	GM12878	blood:	n/a	n/a
11	POLR2A	chr17:37882678-37884652	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr17:37882587-37886850	K562	blood:	n/a	n/a
13	POLR2A	chr17:37880838-37884803	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr17:37883606-37884671	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr17:37882535-37886991	A549	lung:	n/a	n/a
16	POLR2A	chr17:37882349-37887130	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr17:37883681-37884605	K562	blood:	n/a	n/a
18	POLR2A	chr17:37882541-37884498	GM12892	blood:	n/a	n/a
19	POLR2A	chr17:37882500-37887127	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr17:37883633-37884182	K562	blood:	n/a	n/a
21	POLR2A	chr17:37882623-37884726	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37818282..37821110-chr17:37882752..37884709,2	K562	blood:
2	chr17:37873495..37876430-chr17:37881806..37884578,2	K562	blood:
3	chr17:37862394..37865054-chr17:37882153..37884156,2	K562	blood:
4	chr17:37855322..37860162-chr17:37882817..37887032,7	MCF-7	breast:
5	chr17:37884020..37887628-chr17:37894260..37898735,4	K562	blood:
6	chr17:37775830..37778279-chr17:37884015..37886724,2	K562	blood:
7	chr17:37879887..37888300-chr17:37891591..37897811,12	K562	blood:
8	chr17:37841897..37844466-chr17:37883421..37885252,2	MCF-7	breast:
9	chr17:37792754..37795170-chr17:37883979..37887971,4	K562	blood:
10	chr17:37841867..37845178-chr17:37881477..37884200,3	K562	blood:

No data

Variant related genes	Relation type
ERBB2	TF binding region
ENSG00000141736	Chromatin interaction
ENSG00000214546	Chromatin interaction
ENSG00000161395	Chromatin interaction
ENSG00000131748	Chromatin interaction
ENSG00000141738	Chromatin interaction
ENSG00000173991	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11653998	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12150298	0.90[CEU][hapmap]
rs12150603	0.91[CEU][hapmap]
rs12940986	0.91[CEU][hapmap]
rs14050	0.81[CEU][hapmap]
rs1476278	0.91[CEU][hapmap]
rs1565923	0.91[CEU][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1810132	0.90[CEU][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2088126	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2247862	0.81[CEU][hapmap]
rs2313171	0.90[CEU][hapmap]
rs2517951	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2517954	0.87[CEU][hapmap]
rs2517955	0.95[CEU][hapmap]
rs2517956	0.86[CEU][hapmap]
rs2517957	0.91[CEU][hapmap]
rs2517958	0.91[CEU][hapmap]
rs2643194	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2643195	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2904766	0.80[ASN][1000 genomes]
rs2934952	0.85[CEU][hapmap]
rs2934953	0.82[CEU][hapmap]
rs2934967	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2934971	0.91[CEU][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2941503	0.85[CEU][hapmap]
rs2941504	0.81[CEU][hapmap]
rs2941505	0.91[CEU][hapmap]
rs2941506	0.91[CEU][hapmap]
rs2952151	0.81[CEU][hapmap]
rs2952155	0.96[ASN][1000 genomes]
rs2952156	0.91[CEU][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2952157	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4252627	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4795393	0.83[ASN][1000 genomes]
rs8078228	0.91[CEU][hapmap]
rs903501	0.81[CEU][hapmap]
rs903502	0.91[CEU][hapmap]
rs903506	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs907087	0.81[CEU][hapmap]
rs907089	0.91[CEU][hapmap]
rs9303274	0.91[CEU][hapmap]
rs9675194	0.91[CEU][hapmap]

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	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv1792029	chr17:37797757-37886460	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1056234	chr17:37862605-37909988	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv908219	chr17:37880265-37917633	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37858000-37885200	Weak transcription	Fetal Brain Male	brain
2	chr17:37858000-37885600	Weak transcription	Hela-S3	cervix
3	chr17:37862200-37885200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr17:37862400-37885400	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr17:37862400-37885600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:37862400-37885600	Strong transcription	Fetal Stomach	stomach
7	chr17:37862400-37885800	Weak transcription	Right Atrium	heart
8	chr17:37862600-37885600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr17:37862800-37885600	Strong transcription	Fetal Intestine Large	intestine
10	chr17:37863000-37885600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr17:37863200-37885600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr17:37863200-37885800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr17:37863600-37885600	Strong transcription	Fetal Intestine Small	intestine
14	chr17:37865000-37884800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr17:37865800-37884200	Weak transcription	Brain Angular Gyrus	brain
16	chr17:37866000-37885000	Weak transcription	Primary B cells from cord blood	blood
17	chr17:37872200-37886000	Weak transcription	NH-A	brain
18	chr17:37872800-37885400	Strong transcription	Stomach Smooth Muscle	stomach
19	chr17:37873600-37885200	Strong transcription	Fetal Muscle Leg	muscle
20	chr17:37873600-37885600	Strong transcription	Liver	Liver
21	chr17:37873800-37885400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr17:37875600-37884800	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr17:37875800-37885400	Strong transcription	Lung	lung
24	chr17:37876200-37885600	Strong transcription	Fetal Muscle Trunk	muscle
25	chr17:37876400-37885600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr17:37876800-37885200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr17:37876800-37885800	Weak transcription	HSMM	muscle
28	chr17:37876800-37886000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr17:37877200-37886000	Weak transcription	Psoas Muscle	Psoas
30	chr17:37877800-37885400	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr17:37878400-37885200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr17:37878400-37885600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr17:37878400-37885800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:37879000-37886200	Weak transcription	Fetal Kidney	kidney
35	chr17:37879400-37884400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr17:37879400-37884400	Enhancers	HUVEC	blood vessel
37	chr17:37879400-37885200	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr17:37879400-37885400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr17:37879400-37885400	Strong transcription	HepG2	liver
40	chr17:37879600-37884400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr17:37879600-37884600	Strong transcription	Aorta	Aorta
42	chr17:37879600-37885200	Strong transcription	Colonic Mucosa	Colon
43	chr17:37879600-37885200	Strong transcription	Fetal Brain Female	brain
44	chr17:37879600-37885400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr17:37879600-37885600	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr17:37879600-37885800	Strong transcription	NHLF	lung
47	chr17:37879800-37885200	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr17:37879800-37885400	Strong transcription	Right Ventricle	heart
49	chr17:37879800-37885800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr17:37880000-37884200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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