Variant report

Variant	rs373315719
Chromosome Location	chr17:37618703-37618704
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37399360..37401655-chr17:37617995..37620888,2	K562	blood:
2	chr17:37556913..37559429-chr17:37617747..37620632,2	K562	blood:
3	chr17:37604386..37611889-chr17:37616048..37620931,25	K562	blood:
4	chr17:37618143..37619804-chr17:37685071..37687650,2	K562	blood:
5	chr17:37353026..37355461-chr17:37616658..37619340,2	MCF-7	breast:
6	chr17:37618391..37620172-chr17:37870327..37873134,2	K562	blood:
7	chr17:37604313..37610125-chr17:37615155..37621784,15	MCF-7	breast:
8	chr17:37617575..37619643-chr17:37685798..37687650,2	K562	blood:
9	chr17:37605291..37610010-chr17:37614517..37620203,14	MCF-7	breast:
10	chr17:37604291..37611614-chr17:37614953..37621274,26	K562	blood:
11	chr17:37618068..37618935-chr3:172468522..172469137,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000114346	Chromatin interaction
ENSG00000266469	Chromatin interaction
ENSG00000265460	Chromatin interaction
ENSG00000167258	Chromatin interaction
ENSG00000141736	Chromatin interaction
ENSG00000108306	Chromatin interaction
ENSG00000067191	Chromatin interaction
ENSG00000125686	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
9	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
10	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
11	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
12	nsv1063848	chr17:37575622-37707592	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	nsv827985	chr17:37617508-37619261	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37616800-37619200	Active TSS	Brain Hippocampus Middle	brain
2	chr17:37616800-37619200	Active TSS	A549	lung
3	chr17:37616800-37619600	Active TSS	Brain Anterior Caudate	brain
4	chr17:37616800-37620400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr17:37616800-37620400	Active TSS	Stomach Smooth Muscle	stomach
6	chr17:37617000-37618800	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr17:37617000-37618800	Active TSS	Duodenum Mucosa	Duodenum
8	chr17:37617000-37618800	Active TSS	Thymus	Thymus
9	chr17:37617000-37619000	Active TSS	Brain Substantia Nigra	brain
10	chr17:37617000-37619000	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr17:37617000-37619400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr17:37617000-37619400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr17:37617000-37619600	Active TSS	Monocytes-CD14+_RO01746	blood
14	chr17:37617000-37619800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr17:37617000-37619800	Active TSS	Colon Smooth Muscle	Colon
16	chr17:37617000-37619800	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr17:37617000-37620000	Active TSS	Fetal Kidney	kidney
18	chr17:37617000-37620000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr17:37617000-37620000	Active TSS	Hela-S3	cervix
20	chr17:37617000-37620000	Active TSS	K562	blood
21	chr17:37617000-37620200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:37617000-37620200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:37617000-37620200	Active TSS	HSMM	muscle
24	chr17:37617000-37620200	Active TSS	Osteobl	bone
25	chr17:37617000-37620400	Active TSS	Fetal Thymus	thymus
26	chr17:37617000-37620400	Active TSS	Psoas Muscle	Psoas
27	chr17:37617000-37620600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr17:37617000-37620600	Active TSS	NHDF-Ad	bronchial
29	chr17:37617000-37621000	Active TSS	Colonic Mucosa	Colon
30	chr17:37617000-37621000	Active TSS	Fetal Intestine Small	intestine
31	chr17:37617000-37621200	Active TSS	Fetal Intestine Large	intestine
32	chr17:37617200-37618800	Active TSS	Primary T cells from cord blood	blood
33	chr17:37617200-37618800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr17:37617200-37619000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr17:37617200-37619000	Active TSS	Brain Cingulate Gyrus	brain
36	chr17:37617200-37619200	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr17:37617200-37619400	Active TSS	H9 Cell Line	embryonic stem cell
38	chr17:37617200-37619400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr17:37617200-37619400	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr17:37617200-37619400	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr17:37617200-37619600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:37617200-37619600	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr17:37617200-37619600	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr17:37617200-37619600	Active TSS	Fetal Lung	lung
45	chr17:37617200-37619600	Active TSS	Gastric	stomach
46	chr17:37617200-37619600	Active TSS	Rectal Smooth Muscle	rectum
47	chr17:37617200-37619600	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr17:37617200-37619600	Active TSS	HUVEC	blood vessel
49	chr17:37617200-37619800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr17:37617200-37619800	Active TSS	Esophagus	oesophagus

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