Variant report

Variant	rs8100697
Chromosome Location	chr19:38724630-38724631
allele	A/G
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	CTCF	chr19:38724560-38724710	GM12873	blood:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
2	CTCF	chr19:38724405-38724801	HepG2	liver:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
3	CTCF	chr19:38724540-38724690	GM12871	blood:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
4	CTCF	chr19:38724520-38724670	HA-sp	spinal cord:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
5	HCFC1	chr19:38724317-38724908	Hela-S3	cervix:	n/a	n/a
6	NRF1	chr19:38724445-38724657	GM12878	blood:	n/a	n/a
7	CTCF	chr19:38724540-38724690	HMF	breast:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
8	JUND	chr19:38724464-38724905	K562	blood:	n/a	n/a
9	CTCF	chr19:38724520-38724670	NHLF	lung:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
10	CTCF	chr19:38724475-38724740	GM10248	blood:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
11	CTCF	chr19:38724503-38724757	MCF-7	breast:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
12	SIN3AK20	chr19:38724285-38725015	A549	lung:	n/a	n/a
13	CTCF	chr19:38724480-38724630	AG04450	lung:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724612-38724621
14	RAD21	chr19:38724258-38725048	HCT-116	colon:	n/a	chr19:38724614-38724623 chr19:38724610-38724629 chr19:38724611-38724625 chr19:38724615-38724627
15	CTCF	chr19:38724486-38724732	ProgFib	skin:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
16	YY1	chr19:38724509-38724841	HepG2	liver:	n/a	n/a
17	CTCF	chr19:38724540-38724690	K562	blood:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
18	CTCF	chr19:38724540-38724690	AG09309	skin:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
19	CTCF	chr19:38724392-38724758	K562	blood:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
20	CTCF	chr19:38724486-38724761	MCF-7	breast:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
21	CTCF	chr19:38724540-38724690	AG10803	skin:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
22	CTCF	chr19:38724438-38724756	GM12878	blood:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
23	RCOR1	chr19:38724411-38724690	K562	blood:	n/a	n/a
24	CTCF	chr19:38724429-38724730	SK-N-SH_RA	brain:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
25	RAD21	chr19:38724337-38724881	HepG2	liver:	n/a	chr19:38724614-38724623 chr19:38724610-38724629 chr19:38724611-38724625 chr19:38724615-38724627
26	CTCF	chr19:38724540-38724690	HBMEC	blood vessel:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
27	CTCF	chr19:38724520-38724670	GM12864	blood:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
28	CTCF	chr19:38724540-38724690	GM12865	blood:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
29	TBL1XR1	chr19:38724558-38724702	GM12878	blood:	n/a	n/a
30	CTCF	chr19:38724540-38724690	AG09319	gingival:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
31	CTCF	chr19:38724520-38724670	AG04450	lung:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
32	TBL1XR1	chr19:38724485-38724756	K562	blood:	n/a	n/a
33	CTCF	chr19:38724540-38724690	HEK293	kidney:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
34	CTCF	chr19:38724371-38724839	IMR90	lung:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
35	BCL3	chr19:38724193-38725066	A549	lung:	n/a	chr19:38724620-38724628
36	CTCF	chr19:38724391-38724935	K562	blood:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
37	CTCF	chr19:38724560-38724710	GM12878	blood:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
38	CTCF	chr19:38724540-38724690	GM12875	blood:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
39	CTCF	chr19:38724560-38724710	HVMF	connective:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
40	CTCF	chr19:38724520-38724670	HPF	lung:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
41	CTCF	chr19:38724500-38724650	BE2_C	brain:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
42	CTCF	chr19:38724580-38724730	NHDF-neo	bronchial:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
43	SMC3	chr19:38724416-38724865	K562	blood:	n/a	chr19:38724611-38724625
44	RFX5	chr19:38724546-38724788	GM12878	blood:	n/a	n/a
45	CTCF	chr19:38724540-38724690	HepG2	liver:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
46	YY1	chr19:38724519-38724710	K562	blood:	n/a	n/a
47	CTCF	chr19:38724474-38724770	Spleen_OC	spleen:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
48	CTCF	chr19:38724520-38724670	MCF-7	breast:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
49	CTCF	chr19:38724428-38724806	K562	blood:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
50	CTCF	chr19:38724500-38724741	MCF-7	breast:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621

No.	Distal block	Cell Line	Cell type
1	chr19:38723024..38725443-chr19:38878672..38880879,2	MCF-7	breast:
2	chr19:38717093..38718677-chr19:38724126..38726976,2	K562	blood:
3	chr19:38724585..38727174-chr19:38883492..38886224,2	K562	blood:
4	chr19:38724375..38725000-chr19:38875077..38875830,2	MCF-7	breast:
5	chr19:38632776..38633766-chr19:38724199..38724830,3	K562	blood:
6	chr19:38723368..38726031-chr19:38797487..38799175,2	MCF-7	breast:
7	chr19:38724234..38725570-chr19:38893025..38893769,4	K562	blood:
8	chr19:38723198..38725362-chr19:38864157..38865784,2	K562	blood:
9	chr19:38724422..38725057-chr19:38864812..38865588,2	K562	blood:
10	chr19:38720592..38722293-chr19:38724613..38726835,2	MCF-7	breast:
11	chr19:38723491..38725548-chr19:38807172..38810073,2	MCF-7	breast:
12	chr19:38724122..38725097-chr19:38877454..38878445,2	K562	blood:
13	chr19:38722679..38724899-chr19:38824726..38826425,2	MCF-7	breast:
14	chr19:38724477..38726167-chr19:38793012..38795957,2	MCF-7	breast:
15	chr19:38724179..38724967-chr19:38875093..38875913,3	K562	blood:
16	chr19:38724232..38725096-chr19:38825912..38826777,3	MCF-7	breast:
17	chr19:38724017..38726081-chr19:38800936..38802503,2	MCF-7	breast:
18	chr19:38701284..38702957-chr19:38723121..38725019,2	K562	blood:
19	chr19:38724284..38725892-chr19:38729900..38732787,2	MCF-7	breast:
20	chr19:38716917..38718796-chr19:38722935..38725683,2	MCF-7	breast:
21	chr19:38724056..38725147-chr19:38825813..38826799,6	K562	blood:
22	chr19:38723954..38725117-chr19:38825843..38827182,6	MCF-7	breast:

Variant related genes	Relation type
DPF1	TF binding region
ENSG00000167644	Chromatin interaction
ENSG00000167645	Chromatin interaction
ENSG00000188766	Chromatin interaction
ENSG00000099341	Chromatin interaction
ENSG00000179168	Chromatin interaction
ENSG00000099338	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10407156	0.87[EUR][1000 genomes]
rs34121040	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4802291	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66666015	0.86[EUR][1000 genomes]
rs73028384	0.83[ASN][1000 genomes]
rs73028390	0.91[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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38720600-38740400	Weak transcription	Right Atrium	heart
2	chr19:38721000-38734400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr19:38724200-38734400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr19:38724400-38724800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr19:38724400-38724800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr19:38724400-38724800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr19:38724400-38724800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr19:38724600-38724800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:38724600-38724800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:38724600-38724800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr19:38724600-38724800	Enhancers	Primary B cells from peripheral blood	blood
12	chr19:38724600-38724800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:38724600-38724800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:38724600-38724800	Enhancers	Ovary	ovary
15	chr19:38724600-38724800	Enhancers	HepG2	liver
16	chr19:38724600-38725000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:38724600-38725000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:38724600-38725000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr19:38724600-38725000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr19:38724600-38725000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:38724600-38725000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr19:38724600-38725000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:38724600-38725000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:38724600-38725000	Enhancers	Fetal Heart	heart
25	chr19:38724600-38725000	Enhancers	A549	lung
26	chr19:38724600-38725000	Enhancers	K562	blood

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