Variant report

Variant	rs9917075
Chromosome Location	chr19:18943606-18943607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:220)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:220 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZEB1	chr19:18943291-18943807	GM12878	blood:	n/a	n/a
2	CTCF	chr19:18943540-18943690	GM12869	blood:	n/a	n/a
3	ESR1	chr19:18943586-18943799	T-47D	breast:	n/a	chr19:18943697-18943712
4	CHD1	chr19:18942747-18943685	GM12878	blood:	n/a	n/a
5	CTCF	chr19:18943540-18943690	GM12868	blood:	n/a	n/a
6	TAF1	chr19:18943338-18943710	K562	blood:	n/a	n/a
7	CTCF	chr19:18943540-18943690	GM12872	blood:	n/a	n/a
8	MAX	chr19:18942261-18944046	K562	blood:	n/a	chr19:18943256-18943265 chr19:18943254-18943264
9	CBX3	chr19:18943406-18943798	K562	blood:	n/a	n/a
10	CHD2	chr19:18943490-18943610	K562	blood:	n/a	n/a
11	POLR2A	chr19:18942410-18943794	Hela-S3	cervix:	n/a	n/a
12	RAD21	chr19:18943475-18943657	K562	blood:	n/a	n/a
13	CTCF	chr19:18943520-18943670	AG10803	skin:	n/a	n/a
14	CTCF	chr19:18943540-18943690	AoAF	blood vessel:	n/a	n/a
15	MYC	chr19:18942447-18943770	K562	blood:	n/a	chr19:18943256-18943265 chr19:18943254-18943264
16	CTCF	chr19:18943540-18943690	HEK293	kidney:	n/a	n/a
17	CTCF	chr19:18943500-18943650	AG04449	skin:	n/a	n/a
18	CTCF	chr19:18943544-18943666	GM10248	blood:	n/a	n/a
19	CTCF	chr19:18943500-18943650	RPTEC	kidney:	n/a	n/a
20	CTCF	chr19:18943520-18943670	BJ	skin:	n/a	n/a
21	CTCF	chr19:18943600-18943750	GM12873	blood:	n/a	n/a
22	ZNF143	chr19:18943568-18943744	GM12878	blood:	n/a	n/a
23	RAD21	chr19:18943483-18943690	HepG2	liver:	n/a	n/a
24	CTCF	chr19:18943460-18943610	NHLF	lung:	n/a	n/a
25	CTCF	chr19:18943540-18943690	GM12867	blood:	n/a	n/a
26	HCFC1	chr19:18943564-18943752	K562	blood:	n/a	n/a
27	CTCF	chr19:18943500-18943650	MCF-7	breast:	n/a	n/a
28	CTCF	chr19:18943520-18943670	HCT-116	colon:	n/a	n/a
29	TCF12	chr19:18943500-18943665	GM12878	blood:	n/a	chr19:18943584-18943591
30	CTCF	chr19:18942763-18943795	K562	blood:	n/a	n/a
31	CTCF	chr19:18943538-18943687	Fibrobl	skin:	n/a	n/a
32	CTCF	chr19:18943560-18943710	HEEpiC	esophagus:	n/a	n/a
33	CTCF	chr19:18943560-18943710	GM12878	blood:	n/a	n/a
34	TBL1XR1	chr19:18943481-18943730	K562	blood:	n/a	n/a
35	CTCF	chr19:18943542-18943666	MCF-7	breast:	n/a	n/a
36	CTCF	chr19:18943540-18943690	HPF	lung:	n/a	n/a
37	CHD1	chr19:18942180-18944332	IMR90	lung:	n/a	n/a
38	CTCF	chr19:18943460-18943610	A549	lung:	n/a	n/a
39	CTCF	chr19:18943552-18943669	NHEK	skin:	n/a	n/a
40	POLR2A	chr19:18943439-18943846	Hela-S3	cervix:	n/a	n/a
41	YY1	chr19:18942375-18943665	K562	blood:	n/a	chr19:18942960-18942969 chr19:18942963-18942972 chr19:18942620-18942631
42	MAX	chr19:18943487-18943721	K562	blood:	n/a	n/a
43	RAD21	chr19:18943433-18943749	IMR90	lung:	n/a	n/a
44	CHD1	chr19:18942875-18944075	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr19:18943580-18943730	WI-38	lung:	n/a	n/a
46	CTCF	chr19:18943540-18943673	MCF-7	breast:	n/a	n/a
47	ZC3H11A	chr19:18943481-18943615	K562	blood:	n/a	n/a
48	CTCF	chr19:18943560-18943710	GM12871	blood:	n/a	n/a
49	CTCF	chr19:18943560-18943710	NHEK	skin:	n/a	n/a
50	MBD4	chr19:18943488-18943856	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18546771..18549506-chr19:18943551..18946783,3	K562	blood:
2	chr19:18943405..18943938-chr19:19173944..19174627,2	MCF-7	breast:
3	chr19:18704569..18706809-chr19:18943109..18944717,2	K562	blood:
4	chr19:18899550..18903298-chr19:18943373..18946094,3	K562	blood:
5	chr19:18942543..18946544-chr19:19028586..19032596,4	MCF-7	breast:
6	chr19:18792191..18795996-chr19:18942387..18945269,3	MCF-7	breast:
7	chr19:18943201..18946442-chr19:18960453..18965147,6	MCF-7	breast:

No data

Variant related genes	Relation type
UPF1	TF binding region
ENSG00000105664	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000105662	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000006016	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000005007	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7256868	1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911297	chr19:18928480-19077385	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911298	chr19:18928480-19093619	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv911299	chr19:18939954-18984843	Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv3407673	chr19:18941977-18944525	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3452119	chr19:18942002-18944150	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 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	chr19:18941600-18943800	Active TSS	Duodenum Mucosa	Duodenum
2	chr19:18942200-18943800	Active TSS	Brain Cingulate Gyrus	brain
3	chr19:18942200-18943800	Active TSS	NHLF	lung
4	chr19:18942200-18944000	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr19:18942200-18944000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr19:18942200-18944000	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr19:18942200-18944200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:18942200-18944200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr19:18942200-18944400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:18942200-18944400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:18942200-18944400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:18942200-18944400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:18942200-18944400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:18942200-18944400	Active TSS	Muscle Satellite Cultured Cells	--
15	chr19:18942200-18944400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr19:18942200-18944400	Active TSS	Colon Smooth Muscle	Colon
17	chr19:18942200-18944400	Active TSS	Left Ventricle	heart
18	chr19:18942200-18944400	Active TSS	Ovary	ovary
19	chr19:18942200-18944400	Active TSS	Pancreas	Pancrea
20	chr19:18942200-18944400	Active TSS	Psoas Muscle	Psoas
21	chr19:18942200-18944400	Active TSS	Rectal Smooth Muscle	rectum
22	chr19:18942200-18944400	Active TSS	HSMM	muscle
23	chr19:18942200-18944400	Active TSS	NHDF-Ad	bronchial
24	chr19:18942200-18944400	Active TSS	Osteobl	bone
25	chr19:18942200-18944600	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr19:18942200-18944600	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr19:18942200-18944600	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr19:18942200-18944600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr19:18942200-18944600	Active TSS	Fetal Kidney	kidney
30	chr19:18942200-18944600	Active TSS	Right Atrium	heart
31	chr19:18942200-18944600	Active TSS	A549	lung
32	chr19:18942200-18944600	Bivalent/Poised TSS	HepG2	liver
33	chr19:18942200-18944800	Active TSS	H9 Cell Line	embryonic stem cell
34	chr19:18942200-18944800	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr19:18942200-18945000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:18942200-18945000	Active TSS	Esophagus	oesophagus
37	chr19:18942200-18945000	Active TSS	Gastric	stomach
38	chr19:18942200-18945000	Active TSS	Lung	lung
39	chr19:18942200-18945200	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr19:18942200-18945200	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr19:18942200-18945200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:18942200-18945200	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr19:18942200-18945400	Active TSS	HSMMtube	muscle
44	chr19:18942200-18945600	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr19:18942400-18943800	Active TSS	Placenta Amnion	Placenta Amnion
46	chr19:18942400-18943800	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr19:18942400-18943800	Active TSS	Spleen	Spleen
48	chr19:18942400-18944000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr19:18942400-18944200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr19:18942400-18944400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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