Variant report

Variant	rs2597176
Chromosome Location	chr17:46059701-46059702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46059324..46060988-chr17:46072886..46074835,2	K562	blood:
2	chr17:46026295..46027225-chr17:46059476..46060457,2	K562	blood:
3	chr17:46058567..46060274-chr17:46094283..46095941,2	K562	blood:
4	chr17:46048621..46053225-chr17:46056317..46060413,5	K562	blood:
5	chr17:46058631..46063478-chr17:46064617..46070061,8	K562	blood:
6	chr17:46058567..46062223-chr17:46094441..46097254,3	K562	blood:
7	chr17:46033345..46035913-chr17:46058791..46060752,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167183	Chromatin interaction
ENSG00000264701	Chromatin interaction
ENSG00000108465	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2525089	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525099	1.00[ASN][1000 genomes]
rs2525100	1.00[ASN][1000 genomes]
rs2597167	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2923063	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56947799	1.00[ASN][1000 genomes]
rs60163848	1.00[ASN][1000 genomes]
rs61521088	1.00[ASN][1000 genomes]
rs73321620	1.00[ASN][1000 genomes]
rs73321625	1.00[ASN][1000 genomes]
rs73321628	1.00[ASN][1000 genomes]
rs73321689	1.00[ASN][1000 genomes]
rs73985431	1.00[ASN][1000 genomes]
rs73985445	1.00[ASN][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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46049800-46066600	Weak transcription	Small Intestine	intestine
2	chr17:46050200-46060400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr17:46050200-46060400	Strong transcription	Osteobl	bone
4	chr17:46050200-46061800	Strong transcription	NHLF	lung
5	chr17:46050200-46062000	Strong transcription	NHEK	skin
6	chr17:46050200-46062200	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr17:46050200-46062800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr17:46050200-46063000	Strong transcription	Fetal Muscle Trunk	muscle
9	chr17:46050200-46063400	Strong transcription	Fetal Stomach	stomach
10	chr17:46050400-46060800	Strong transcription	Ovary	ovary
11	chr17:46050400-46061000	Strong transcription	A549	lung
12	chr17:46050400-46061200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr17:46050400-46061400	Strong transcription	HepG2	liver
14	chr17:46050400-46062000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:46050400-46062200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr17:46050400-46063000	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr17:46050600-46061800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr17:46050600-46062200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr17:46050600-46062200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr17:46050800-46060000	Strong transcription	Brain Angular Gyrus	brain
21	chr17:46050800-46060200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:46050800-46060200	Strong transcription	Adipose Nuclei	Adipose
23	chr17:46050800-46060200	Strong transcription	Gastric	stomach
24	chr17:46050800-46060800	Strong transcription	Lung	lung
25	chr17:46050800-46061000	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr17:46050800-46061200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr17:46050800-46061600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr17:46050800-46061600	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr17:46050800-46061800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr17:46050800-46062000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr17:46050800-46062000	Strong transcription	Primary B cells from peripheral blood	blood
32	chr17:46050800-46062200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr17:46050800-46062400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr17:46050800-46062600	Strong transcription	Fetal Intestine Small	intestine
35	chr17:46050800-46062800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr17:46050800-46063000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr17:46050800-46063000	Strong transcription	Fetal Muscle Leg	muscle
38	chr17:46051000-46060000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr17:46051000-46060200	Strong transcription	Left Ventricle	heart
40	chr17:46051000-46060800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr17:46051000-46061000	Strong transcription	Rectal Smooth Muscle	rectum
42	chr17:46051000-46061800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr17:46051000-46062000	Strong transcription	Primary B cells from cord blood	blood
44	chr17:46051000-46062200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:46051000-46062200	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr17:46051000-46063000	Strong transcription	Primary T cells from cord blood	blood
47	chr17:46051000-46063000	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr17:46051200-46060200	Strong transcription	Colonic Mucosa	Colon
49	chr17:46051200-46060200	Strong transcription	HSMMtube	muscle
50	chr17:46051200-46060400	Strong transcription	Brain Inferior Temporal Lobe	brain

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