Variant report

Variant	rs200114569
Chromosome Location	chr17:46114572-46114573
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:137)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:137 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:46114231-46114820	MCF-7	breast:	n/a	n/a
2	SMC3	chr17:46114354-46114628	HepG2	liver:	n/a	n/a
3	CTCF	chr17:46114343-46114647	GM19238	blood:	n/a	n/a
4	CTCF	chr17:46114460-46114610	BE2_C	brain:	n/a	n/a
5	CTCF	chr17:46113875-46115007	A549	lung:	n/a	n/a
6	CTCF	chr17:46114379-46114609	GM13977	blood:	n/a	n/a
7	CTCF	chr17:46114440-46114590	GM12869	blood:	n/a	n/a
8	CTCF	chr17:46114440-46114590	GM12867	blood:	n/a	n/a
9	CTCF	chr17:46114270-46114709	HepG2	liver:	n/a	n/a
10	CTCF	chr17:46114460-46114610	GM12864	blood:	n/a	n/a
11	CTCF	chr17:46113649-46115069	SK-N-SH	brain:	n/a	n/a
12	CTCF	chr17:46114371-46114626	Fibrobl	skin:	n/a	n/a
13	CTCF	chr17:46114440-46114590	HVMF	connective:	n/a	n/a
14	CTCF	chr17:46114440-46114590	HRE	kidney:	n/a	n/a
15	MAZ	chr17:46114400-46114843	GM12878	blood:	n/a	n/a
16	CTCF	chr17:46114440-46114590	GM12868	blood:	n/a	n/a
17	RAD21	chr17:46114263-46114641	H1-hESC	embryonic stem cell:	n/a	n/a
18	USF1	chr17:46114261-46114590	A549	lung:	n/a	n/a
19	CTCF	chr17:46114398-46114617	GM20000	blood:	n/a	n/a
20	POLR2A	chr17:46114223-46115431	ProgFib	skin:	n/a	n/a
21	CTCF	chr17:46114440-46114590	WI-38	lung:	n/a	n/a
22	GABPA	chr17:46114339-46114698	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr17:46114460-46114610	NHLF	lung:	n/a	n/a
24	RAD21	chr17:46114368-46114672	HepG2	liver:	n/a	n/a
25	CTCF	chr17:46114304-46114702	IMR90	lung:	n/a	n/a
26	CTCF	chr17:46114440-46114590	GM12866	blood:	n/a	n/a
27	CTCF	chr17:46114440-46114590	HEEpiC	esophagus:	n/a	n/a
28	RAD21	chr17:46114386-46114603	GM12878	blood:	n/a	n/a
29	CTCF	chr17:46114364-46114641	GM12878	blood:	n/a	n/a
30	YY1	chr17:46114351-46114731	A549	lung:	n/a	n/a
31	CTCF	chr17:46114366-46114621	Spleen_OC	spleen:	n/a	n/a
32	ZNF143	chr17:46114334-46114674	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr17:46114396-46114587	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr17:46114440-46114590	GM12875	blood:	n/a	n/a
35	POLR2A	chr17:46114197-46114884	MCF-7	breast:	n/a	n/a
36	EBF1	chr17:46114306-46114639	GM12878	blood:	n/a	n/a
37	POLR2A	chr17:46114392-46114792	A549	lung:	n/a	n/a
38	BACH1	chr17:46114337-46114821	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr17:46114351-46114641	T-47D	breast:	n/a	n/a
40	MYC	chr17:46114418-46114641	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr17:46114395-46114602	GM10248	blood:	n/a	n/a
42	CTCF	chr17:46114331-46114650	GM19239	blood:	n/a	n/a
43	EBF1	chr17:46114239-46114597	GM12878	blood:	n/a	n/a
44	CTCF	chr17:46114398-46114610	HepG2	liver:	n/a	n/a
45	CTCF	chr17:46114355-46114650	GM12892	blood:	n/a	n/a
46	CTCF	chr17:46114396-46114607	GM13976	blood:	n/a	n/a
47	CTCF	chr17:46114372-46114611	GM10266	blood:	n/a	n/a
48	MYC	chr17:46114442-46114572	MCF-7	breast:	n/a	n/a
49	ELF1	chr17:46114235-46114876	GM12878	blood:	n/a	n/a
50	RAD21	chr17:46114345-46114630	SK-N-SH_RA	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46114300..46116159-chr17:46124838..46126678,3	K562	blood:
2	chr16:67063760..67064283-chr17:46114502..46115278,2	MCF-7	breast:

No data

Variant related genes	Relation type
COPZ2	TF binding region
ENSG00000263412	Chromatin interaction
ENSG00000067955	Chromatin interaction
ENSG00000082641	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	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
3	esv3427892	chr17:46114053-46116401	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46113800-46114600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
2	chr17:46113800-46114600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr17:46113800-46114600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr17:46114000-46114600	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr17:46114000-46114600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr17:46114000-46114600	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr17:46114000-46114600	Enhancers	K562	blood
8	chr17:46114000-46114600	Flanking Active TSS	NHLF	lung
9	chr17:46114000-46114800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr17:46114000-46114800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr17:46114000-46114800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr17:46114000-46114800	Flanking Bivalent TSS/Enh	HepG2	liver
13	chr17:46114000-46115000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:46114000-46115400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr17:46114200-46114600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:46114200-46114600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
17	chr17:46114200-46114600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:46114200-46114600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr17:46114200-46114600	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
20	chr17:46114200-46114600	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr17:46114200-46114600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr17:46114200-46114600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr17:46114200-46114600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
24	chr17:46114200-46114600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
25	chr17:46114200-46114600	Flanking Active TSS	Left Ventricle	heart
26	chr17:46114200-46114600	Enhancers	Lung	lung
27	chr17:46114200-46114600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
28	chr17:46114200-46114600	Flanking Active TSS	Right Atrium	heart
29	chr17:46114200-46114600	Flanking Active TSS	Right Ventricle	heart
30	chr17:46114200-46114600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
31	chr17:46114200-46114600	Bivalent Enhancer	Small Intestine	intestine
32	chr17:46114200-46114600	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr17:46114200-46114600	Enhancers	Spleen	Spleen
34	chr17:46114200-46114800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
35	chr17:46114200-46114800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
36	chr17:46114200-46114800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
37	chr17:46114200-46114800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
38	chr17:46114200-46114800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
39	chr17:46114200-46114800	Flanking Active TSS	NHEK	skin
40	chr17:46114200-46115000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
41	chr17:46114200-46115000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr17:46114200-46115000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr17:46114200-46115000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
44	chr17:46114200-46115000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr17:46114200-46115000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr17:46114200-46115000	Flanking Bivalent TSS/Enh	Placenta	Placenta
47	chr17:46114200-46115400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr17:46114200-46115400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr17:46114200-46115400	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr17:46114200-46115400	Active TSS	HSMMtube	muscle

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