Variant report

Variant	rs57134764
Chromosome Location	chr17:17939428-17939429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr17:17939020-17939440	K562	blood:	n/a	n/a
2	TRIM28	chr17:17938976-17939437	K562	blood:	n/a	n/a
3	PML	chr17:17939060-17939441	K562	blood:	n/a	n/a
4	GATA1	chr17:17938887-17939532	K562	blood:	n/a	n/a
5	CEBPB	chr17:17939165-17940003	K562	blood:	n/a	n/a
6	NR2F2	chr17:17938946-17939476	K562	blood:	n/a	n/a
7	RCOR1	chr17:17939062-17939534	K562	blood:	n/a	n/a
8	CEBPB	chr17:17939028-17939532	K562	blood:	n/a	n/a
9	STAT5A	chr17:17938958-17939443	K562	blood:	n/a	n/a
10	GATA2	chr17:17938936-17939460	K562	blood:	n/a	n/a
11	CEBPD	chr17:17938934-17939495	K562	blood:	n/a	n/a
12	POLR2A	chr17:17938979-17939462	K562	blood:	n/a	n/a
13	EP300	chr17:17938982-17939507	K562	blood:	n/a	n/a
14	GATA1	chr17:17938856-17939604	PBDE	blood:	n/a	n/a
15	GATA2	chr17:17939050-17939435	K562	blood:	n/a	n/a
16	NR2F2	chr17:17938967-17939577	K562	blood:	n/a	n/a
17	TEAD4	chr17:17938898-17939526	K562	blood:	n/a	n/a
18	POLR2A	chr17:17938998-17939468	K562	blood:	n/a	n/a
19	TAL1	chr17:17938902-17939525	K562	blood:	n/a	n/a
20	CEBPD	chr17:17938916-17939475	K562	blood:	n/a	n/a
21	TEAD4	chr17:17938881-17939505	K562	blood:	n/a	n/a
22	JUND	chr17:17939088-17939434	K562	blood:	n/a	n/a
23	GABPA	chr17:17938959-17939444	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17939419-17939469	PrEC	prostate:	n/a
2	chr17:17939419-17939469	Caco-2	colon:	n/a
3	chr17:17939419-17939469	Jurkat	blood:	n/a
4	chr17:17939419-17939469	HCM	heart:	n/a
5	chr17:17939419-17939469	A549	lung:	n/a
6	chr17:17939419-17939469	HL-60	blood:	n/a
7	chr17:17939419-17939469	HIPEpiC	eye:	n/a
8	chr17:17939419-17939469	HCT-116	colon:	n/a
9	chr17:17939419-17939469	SK-N-SH_RA	brain:	n/a
10	chr17:17939419-17939469	NB4	blood:	n/a
11	chr17:17939419-17939469	HCPEpiC	choroid plexus:	n/a
12	chr17:17939419-17939469	GM12891	blood:	n/a
13	chr17:17939419-17939469	AG09319	gingival:	n/a
14	chr17:17939419-17939469	HCF	heart:	n/a
15	chr17:17939419-17939469	HNPCEpiC	eye:	n/a
16	chr17:17939419-17939469	AoSMC	blood vessel:	n/a
17	chr17:17939419-17939469	Hepatocyte	liver:	n/a
18	chr17:17939419-17939469	SK-N-MC	brain:	n/a
19	chr17:17939419-17939469	ECC-1	luminal epithelium:	n/a
20	chr17:17939419-17939469	SK-N-SH	brain:	n/a
21	chr17:17939419-17939469	K562	blood:	n/a
22	chr17:17939419-17939469	HRPEpiC	eye:	n/a
23	chr17:17939419-17939469	HMEC	breast:	n/a
24	chr17:17939419-17939469	HPAEpiC	pulmonary alveolar:	n/a
25	chr17:17939419-17939469	PFSK-1	brain:	n/a
26	chr17:17939419-17939469	HEK293	kidney:	embryo
27	chr17:17939419-17939469	SKMC	muscle:	n/a
28	chr17:17939419-17939469	NHBE	bronchial:	n/a
29	chr17:17939419-17939469	BE2_C	brain:	n/a
30	chr17:17939419-17939469	GM19239	blood:	n/a
31	chr17:17939419-17939469	GM12878	blood:	n/a
32	chr17:17939419-17939469	Hela-S3	cervix:	n/a
33	chr17:17939419-17939469	CMK	blood:	n/a
34	chr17:17939419-17939469	HepG2	liver:	n/a
35	chr17:17939419-17939469	BJ	skin:	n/a
36	chr17:17939419-17939469	GM06990	blood:	n/a
37	chr17:17939419-17939469	AG04450	lung:	fetal
38	chr17:17939419-17939469	AG10803	skin:	n/a
39	chr17:17939419-17939469	NHDF-neo	bronchial:	n/a
40	chr17:17939419-17939469	NT2-D1	testis:	n/a
41	chr17:17939419-17939469	MCF10A-Er-Src	breast:	n/a
42	chr17:17939419-17939469	HUVEC	blood vessel:	n/a
43	chr17:17939419-17939469	AG09309	skin:	n/a
44	chr17:17939419-17939469	HRE	kidney:	n/a
45	chr17:17939419-17939469	HRCEpiC	kidney:	n/a
46	chr17:17939419-17939469	ProgFib	skin:	n/a
47	chr17:17939419-17939469	SAEC	small airway:	n/a
48	chr17:17939419-17939469	NH-A	brain:	n/a
49	chr17:17939419-17939469	T-47D	breast:	n/a
50	chr17:17939419-17939469	AG04449	skin:	fetal

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17938080..17939996-chr17:17990029..17992616,2	K562	blood:
2	chr17:17935495..17939699-chr17:17940472..17943357,4	K562	blood:

No data

Variant related genes	Relation type
GID4	TF binding region
GID4	CpG island
ENSG00000171953	Chromatin interaction
ENSG00000141034	Chromatin interaction
ENSG00000108591	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs56153053	1.00[EUR][1000 genomes]
rs56160247	1.00[EUR][1000 genomes]
rs57662319	0.86[AFR][1000 genomes]
rs58116638	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58280055	0.86[AFR][1000 genomes]
rs58376085	1.00[EUR][1000 genomes]
rs58936409	1.00[EUR][1000 genomes]
rs58970292	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59999521	0.86[AFR][1000 genomes]
rs61050785	1.00[EUR][1000 genomes]
rs7218594	1.00[EUR][1000 genomes]
rs73303840	1.00[EUR][1000 genomes]
rs73303844	1.00[EUR][1000 genomes]
rs73979211	1.00[EUR][1000 genomes]
rs73979243	1.00[EUR][1000 genomes]
rs8066528	1.00[EUR][1000 genomes]
rs8066910	0.83[AFR][1000 genomes]
rs8067146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8068860	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078368	1.00[EUR][1000 genomes]
rs8078811	1.00[EUR][1000 genomes]
rs9914362	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
5	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv510701	chr17:17850474-17955485	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17906200-17941400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:17908800-17941200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr17:17921000-17940000	Weak transcription	Fetal Brain Male	brain
4	chr17:17922200-17941000	Weak transcription	Small Intestine	intestine
5	chr17:17923800-17941400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr17:17925200-17941000	Weak transcription	Colon Smooth Muscle	Colon
7	chr17:17925200-17941000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr17:17925400-17941000	Weak transcription	Colonic Mucosa	Colon
9	chr17:17925400-17941200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr17:17927800-17940800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr17:17930000-17941000	Weak transcription	Brain Anterior Caudate	brain
12	chr17:17930200-17941000	Weak transcription	Brain Angular Gyrus	brain
13	chr17:17930200-17941200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr17:17930200-17941200	Weak transcription	Brain Substantia Nigra	brain
15	chr17:17930200-17941400	Weak transcription	HSMMtube	muscle
16	chr17:17930200-17942000	Weak transcription	Aorta	Aorta
17	chr17:17931000-17940600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr17:17931200-17940600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr17:17931200-17941000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr17:17931600-17940400	Weak transcription	Placenta	Placenta
21	chr17:17931600-17940600	Weak transcription	Pancreas	Pancrea
22	chr17:17931600-17940800	Weak transcription	Esophagus	oesophagus
23	chr17:17931600-17941000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr17:17931600-17941000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr17:17931600-17941000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr17:17931600-17941600	Weak transcription	Ovary	ovary
27	chr17:17931800-17940000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr17:17931800-17940400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr17:17931800-17940600	Weak transcription	Fetal Stomach	stomach
30	chr17:17931800-17940800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr17:17931800-17940800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr17:17931800-17941000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr17:17931800-17941000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr17:17932200-17940400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr17:17932200-17940800	Weak transcription	Hela-S3	cervix
36	chr17:17932400-17940800	Weak transcription	Primary T cells from cord blood	blood
37	chr17:17932400-17941400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:17932600-17940200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr17:17932600-17940800	Weak transcription	Fetal Intestine Small	intestine
40	chr17:17932600-17941000	Weak transcription	Brain Hippocampus Middle	brain
41	chr17:17932600-17941000	Weak transcription	Right Ventricle	heart
42	chr17:17932600-17941200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr17:17932800-17941600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr17:17933200-17940400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr17:17935600-17940200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr17:17935600-17940400	Weak transcription	Spleen	Spleen
47	chr17:17935600-17940800	Weak transcription	HMEC	breast
48	chr17:17935600-17940800	Weak transcription	NHEK	skin
49	chr17:17935600-17941000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr17:17935600-17941000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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