Variant report

Variant	rs8082116
Chromosome Location	chr17:46130867-46130868
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	FOXP2	chr17:46130853-46131045	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr17:46130733-46131770	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr17:46130865-46133815	K562	blood:	n/a	n/a
4	FOXP2	chr17:46130762-46131096	PFSK-1	brain:	n/a	n/a
5	USF2	chr17:46130741-46130941	Hela-S3	cervix:	n/a	chr17:46130810-46130821
6	RAD21	chr17:46130842-46130891	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr17:46130840-46130990	HCPEpiC	choroid plexus:	n/a	n/a
8	POLR2A	chr17:46130844-46131188	HepG2	liver:	n/a	n/a
9	POLR2A	chr17:46130725-46133758	H1-hESC	embryonic stem cell:	n/a	n/a
10	FOXA1	chr17:46130797-46131082	HepG2	liver:	n/a	n/a
11	NR3C1	chr17:46130777-46131097	A549	lung:	n/a	chr17:46131003-46131029 chr17:46131003-46131029 chr17:46131003-46131029 chr17:46131006-46131015 chr17:46131003-46131029 chr17:46131003-46131029
12	MXI1	chr17:46130780-46131499	GM12878	blood:	n/a	n/a
13	POLR2A	chr17:46130851-46130886	HUVEC	blood vessel:	n/a	n/a
14	MXI1	chr17:46130833-46131039	Hela-S3	cervix:	n/a	n/a
15	MXI1	chr17:46128649-46132036	IMR90	lung:	n/a	n/a
16	FOXA1	chr17:46130688-46131164	HepG2	liver:	n/a	n/a
17	EBF1	chr17:46130780-46131016	GM12878	blood:	n/a	chr17:46130924-46130935 chr17:46130844-46130853
18	NR3C1	chr17:46130682-46131151	A549	lung:	n/a	chr17:46131003-46131029 chr17:46130757-46130783 chr17:46131003-46131029 chr17:46130757-46130783 chr17:46131003-46131029 chr17:46131006-46131015 chr17:46130757-46130783 chr17:46131003-46131029 chr17:46131003-46131029 chr17:46130757-46130783
19	POLR2A	chr17:46130683-46131201	MCF10A-Er-Src	breast:	n/a	n/a
20	FOXA1	chr17:46130723-46131094	HepG2	liver:	n/a	n/a
21	FOXA1	chr17:46130824-46131114	A549	lung:	n/a	n/a
22	RFX5	chr17:46130529-46133642	SK-N-SH	brain:	n/a	chr17:46130903-46130918
23	POLR2A	chr17:46130712-46133827	U87	brain:	n/a	n/a
24	NR3C1	chr17:46130745-46131209	A549	lung:	n/a	chr17:46131003-46131029 chr17:46130757-46130783 chr17:46131003-46131029 chr17:46130757-46130783 chr17:46131003-46131029 chr17:46131006-46131015 chr17:46130757-46130783 chr17:46131003-46131029 chr17:46131003-46131029 chr17:46130757-46130783
25	GATA3	chr17:46130668-46131249	MCF-7	breast:	n/a	chr17:46131133-46131143 chr17:46130991-46130998
26	MYC	chr17:46130795-46130884	MCF10A-Er-Src	breast:	n/a	n/a
27	CTCF	chr17:46130844-46130874	MCF-7	breast:	n/a	n/a
28	MYC	chr17:46130844-46130920	MCF-7	breast:	n/a	n/a
29	POLR2A	chr17:46130619-46131906	GM12878	blood:	n/a	n/a
30	MAZ	chr17:46130830-46130979	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr17:46130712-46133948	U87	brain:	n/a	n/a
32	FOXA2	chr17:46130780-46131086	HepG2	liver:	n/a	n/a
33	SIN3AK20	chr17:46130444-46132308	MCF-7	breast:	n/a	n/a
34	NR3C1	chr17:46130614-46131314	A549	lung:	n/a	chr17:46131003-46131029 chr17:46130757-46130783 chr17:46131003-46131029 chr17:46130757-46130783 chr17:46131003-46131029 chr17:46131006-46131015 chr17:46130757-46130783 chr17:46131003-46131029 chr17:46131003-46131029 chr17:46130757-46130783
35	CTCF	chr17:46130720-46130870	NHEK	skin:	n/a	n/a
36	SIN3A	chr17:46130822-46133793	H1-hESC	embryonic stem cell:	n/a	chr17:46132141-46132152
37	POLR2A	chr17:46130573-46131113	K562	blood:	n/a	n/a
38	MXI1	chr17:46128980-46133584	SK-N-SH	brain:	n/a	n/a
39	NR2F2	chr17:46130649-46131295	MCF-7	breast:	n/a	n/a
40	RFX5	chr17:46130812-46131016	HepG2	liver:	n/a	chr17:46130903-46130918
41	NR3C1	chr17:46130731-46131182	A549	lung:	n/a	chr17:46131003-46131029 chr17:46130757-46130783 chr17:46131003-46131029 chr17:46130757-46130783 chr17:46131003-46131029 chr17:46131006-46131015 chr17:46130757-46130783 chr17:46131003-46131029 chr17:46131003-46131029 chr17:46130757-46130783
42	USF1	chr17:46130716-46131111	A549	lung:	n/a	n/a
43	CTCF	chr17:46130840-46130990	BE2_C	brain:	n/a	n/a
44	CTCF	chr17:46130841-46130880	MCF-7	breast:	n/a	n/a
45	CTCF	chr17:46130720-46130870	BE2_C	brain:	n/a	n/a
46	KAP1	chr17:46130571-46130960	U2OS	brain:	n/a	n/a
47	NR3C1	chr17:46130752-46131187	A549	lung:	n/a	chr17:46131003-46131029 chr17:46130757-46130783 chr17:46131003-46131029 chr17:46130757-46130783 chr17:46131003-46131029 chr17:46131006-46131015 chr17:46130757-46130783 chr17:46131003-46131029 chr17:46131003-46131029 chr17:46130757-46130783
48	CTCF	chr17:46130760-46130910	HRPEpiC	eye:	n/a	n/a
49	POLR2A	chr17:46130666-46131149	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46129155..46131443-chr17:46151423..46153191,2	K562	blood:
2	chr17:46033378..46035935-chr17:46129952..46132940,2	MCF-7	breast:

Variant related genes	Relation type
NFE2L1	TF binding region
ENSG00000167183	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16954750	1.00[EUR][1000 genomes]
rs57519584	1.00[EUR][1000 genomes]
rs60171572	1.00[EUR][1000 genomes]
rs8074903	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46124400-46132200	Active TSS	Psoas Muscle	Psoas
2	chr17:46126800-46131200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:46127400-46131600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:46127600-46131000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr17:46127600-46131000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr17:46127600-46131800	Genic enhancers	Fetal Stomach	stomach
7	chr17:46127600-46132800	Genic enhancers	Fetal Intestine Small	intestine
8	chr17:46127800-46131000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr17:46127800-46131200	Transcr. at gene 5' and 3'	HepG2	liver
10	chr17:46127800-46131600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
11	chr17:46127800-46132000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr17:46127800-46132600	Genic enhancers	Fetal Thymus	thymus
13	chr17:46127800-46133000	Genic enhancers	Fetal Intestine Large	intestine
14	chr17:46127800-46133200	Genic enhancers	Primary T cells fromperipheralblood	blood
15	chr17:46127800-46133200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
16	chr17:46127800-46133200	Genic enhancers	Placenta	Placenta
17	chr17:46127800-46133200	Genic enhancers	Pancreas	Pancrea
18	chr17:46127800-46133400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:46127800-46133600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr17:46128000-46131200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr17:46128000-46131200	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
22	chr17:46128000-46131600	Genic enhancers	Esophagus	oesophagus
23	chr17:46128000-46131600	Transcr. at gene 5' and 3'	NHEK	skin
24	chr17:46128000-46131800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
25	chr17:46128000-46131800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
26	chr17:46128000-46132000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr17:46128000-46132600	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr17:46128000-46132600	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
29	chr17:46128000-46133000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
30	chr17:46128000-46133200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr17:46128000-46133800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr17:46128000-46134000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr17:46128000-46134000	Genic enhancers	Gastric	stomach
34	chr17:46128000-46134000	Genic enhancers	Monocytes-CD14+_RO01746	blood
35	chr17:46128000-46134400	Genic enhancers	Primary B cells from peripheral blood	blood
36	chr17:46128000-46138000	Genic enhancers	Spleen	Spleen
37	chr17:46128200-46131000	Enhancers	Aorta	Aorta
38	chr17:46128200-46131200	Flanking Active TSS	Right Atrium	heart
39	chr17:46128200-46131200	Transcr. at gene 5' and 3'	Hela-S3	cervix
40	chr17:46128200-46131400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr17:46128200-46131600	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
42	chr17:46128200-46131800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
43	chr17:46128200-46132000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr17:46128200-46132000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr17:46128200-46132600	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
46	chr17:46128200-46133400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr17:46128200-46133400	Genic enhancers	Lung	lung
48	chr17:46128200-46140800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr17:46128400-46131000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr17:46128400-46131400	Transcr. at gene 5' and 3'	HUVEC	blood vessel

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