Variant report

Variant	rs35662374
Chromosome Location	chr17:37556087-37556088
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr17:37556064-37556365	K562	blood:	n/a	chr17:37556220-37556238
2	HCFC1	chr17:37555896-37558341	Hela-S3	cervix:	n/a	n/a
3	MAFF	chr17:37556051-37556381	HepG2	liver:	n/a	chr17:37556220-37556238
4	MAFK	chr17:37556067-37556394	IMR90	lung:	n/a	chr17:37556221-37556236 chr17:37556221-37556237 chr17:37556224-37556238 chr17:37556225-37556236
5	MAFK	chr17:37555843-37556458	Hela-S3	cervix:	n/a	chr17:37556221-37556236 chr17:37556221-37556237 chr17:37556224-37556238 chr17:37556225-37556236
6	MAFK	chr17:37556062-37556403	HepG2	liver:	n/a	chr17:37556221-37556236 chr17:37556221-37556237 chr17:37556224-37556238 chr17:37556225-37556236
7	MAFK	chr17:37556056-37556392	HepG2	liver:	n/a	chr17:37556221-37556236 chr17:37556221-37556237 chr17:37556224-37556238 chr17:37556225-37556236

No.	Distal block	Cell Line	Cell type
1	chr17:36981303..36983038-chr17:37555854..37557986,2	K562	blood:
2	chr17:37553983..37556273-chr17:37556304..37558931,2	K562	blood:
3	chr17:37553969..37556475-chr17:37564742..37566292,2	MCF-7	breast:
4	chr17:37526230..37528190-chr17:37555834..37557759,2	K562	blood:

Variant related genes	Relation type
ENSG00000266469	TF binding region
ENSG00000108296	Chromatin interaction
ENSG00000266469	Chromatin interaction
ENSG00000263791	Chromatin interaction
ENSG00000108306	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12938115	1.00[AMR][1000 genomes]
rs12942965	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12946647	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12947984	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34496115	1.00[AMR][1000 genomes]
rs34556914	1.00[AMR][1000 genomes]
rs34707882	1.00[AMR][1000 genomes]
rs58513867	1.00[AMR][1000 genomes]
rs59678221	0.80[AFR][1000 genomes]
rs59785347	1.00[AMR][1000 genomes]
rs71369759	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71369762	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7225255	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs8071275	1.00[AMR][1000 genomes]
rs8080057	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
6	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1055612	chr17:37409865-37563236	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
10	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
11	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
12	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers 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	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37498800-37556400	Weak transcription	Thymus	Thymus
2	chr17:37514800-37556200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr17:37517600-37556600	Weak transcription	Fetal Muscle Leg	muscle
4	chr17:37522600-37556200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr17:37522800-37556400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr17:37523400-37556200	Weak transcription	Ovary	ovary
7	chr17:37533200-37556200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr17:37533200-37556600	Weak transcription	Pancreas	Pancrea
9	chr17:37534200-37556200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr17:37534400-37556200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr17:37537000-37556200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr17:37537000-37556200	Weak transcription	Brain Hippocampus Middle	brain
13	chr17:37539200-37556800	Weak transcription	Gastric	stomach
14	chr17:37541600-37556800	Weak transcription	Lung	lung
15	chr17:37541600-37557000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr17:37543400-37556600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr17:37544400-37556200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr17:37544600-37556400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr17:37544600-37556400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr17:37544600-37556600	Weak transcription	Fetal Thymus	thymus
21	chr17:37544800-37556200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr17:37544800-37556400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:37544800-37556600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr17:37544800-37556600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr17:37545000-37556600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr17:37545200-37556600	Weak transcription	Placenta	Placenta
27	chr17:37548600-37556600	Weak transcription	Left Ventricle	heart
28	chr17:37550400-37556400	Weak transcription	HSMM	muscle
29	chr17:37552400-37556400	Weak transcription	Fetal Kidney	kidney
30	chr17:37552800-37556400	Weak transcription	Brain Substantia Nigra	brain
31	chr17:37552800-37556600	Weak transcription	NH-A	brain
32	chr17:37553800-37556200	Weak transcription	Fetal Intestine Small	intestine
33	chr17:37554800-37556400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr17:37555000-37556200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr17:37555200-37556400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr17:37555200-37556400	Enhancers	Colon Smooth Muscle	Colon
37	chr17:37555200-37556400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr17:37555200-37556600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr17:37555400-37556600	Enhancers	Adipose Nuclei	Adipose
40	chr17:37555400-37556600	Enhancers	Rectal Smooth Muscle	rectum
41	chr17:37555600-37556200	Enhancers	Dnd41	blood
42	chr17:37555600-37556400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr17:37555600-37556400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr17:37555600-37556400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr17:37555600-37556600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr17:37555600-37556600	Enhancers	Primary T cells from cord blood	blood
47	chr17:37555600-37556600	Enhancers	Liver	Liver
48	chr17:37555600-37556800	Enhancers	Brain Angular Gyrus	brain
49	chr17:37555600-37559000	Active TSS	K562	blood
50	chr17:37555800-37556200	Enhancers	Brain Germinal Matrix	brain

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