Variant report

Variant	rs35550721
Chromosome Location	chr2:110369330-110369331
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:110369260-110369410	HEEpiC	esophagus:	n/a	n/a
2	CTCF	chr2:110369274-110369386	GM13976	blood:	n/a	n/a
3	FOS	chr2:110369272-110369827	MCF10A-Er-Src	breast:	n/a	n/a
4	CTCF	chr2:110369300-110369450	SAEC	small airway:	n/a	n/a
5	RAD21	chr2:110369156-110369527	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr2:110369211-110369543	SK-N-SH_RA	brain:	n/a	n/a
7	YY1	chr2:110369072-110369362	A549	lung:	n/a	n/a
8	RCOR1	chr2:110369142-110369718	Hela-S3	cervix:	n/a	n/a
9	RAD21	chr2:110369146-110369654	MCF-7	breast:	n/a	n/a
10	CTCF	chr2:110369258-110369435	Medullo	brain:	n/a	n/a
11	SMC3	chr2:110369171-110369564	GM12878	blood:	n/a	n/a
12	CTCF	chr2:110369280-110369430	HEK293	kidney:	n/a	n/a
13	RAD21	chr2:110369175-110369565	HepG2	liver:	n/a	n/a
14	CTCF	chr2:110369300-110369358	GM20000	blood:	n/a	n/a
15	RFX5	chr2:110369203-110369432	Hela-S3	cervix:	n/a	n/a
16	RAD21	chr2:110369185-110370139	SK-N-SH	brain:	n/a	n/a
17	CTCF	chr2:110369261-110369342	A549	lung:	n/a	n/a
18	RAD21	chr2:110369259-110369509	GM12878	blood:	n/a	n/a
19	CTCF	chr2:110369260-110369410	GM12875	blood:	n/a	n/a
20	CTCF	chr2:110369320-110369470	HEEpiC	esophagus:	n/a	n/a
21	CTCF	chr2:110369253-110369420	LNCaP	prostate:	n/a	n/a
22	POLR2A	chr2:110369085-110379088	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr2:110369260-110369410	Hela-S3	cervix:	n/a	n/a
24	STAT3	chr2:110369266-110369792	MCF10A-Er-Src	breast:	n/a	n/a
25	CTCF	chr2:110369290-110369367	GM10266	blood:	n/a	n/a
26	CTCF	chr2:110369279-110369368	Gliobla	brain:	n/a	n/a
27	SMC3	chr2:110369210-110369615	HepG2	liver:	n/a	n/a
28	ZKSCAN1	chr2:110369249-110369632	Hela-S3	cervix:	n/a	n/a
29	MAX	chr2:110369141-110369673	Hela-S3	cervix:	n/a	n/a
30	ARID3A	chr2:110369207-110370805	HepG2	liver:	n/a	n/a
31	SMC3	chr2:110369132-110369637	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr2:110369260-110369410	GM12878	blood:	n/a	n/a
33	CTCF	chr2:110369044-110369556	HCT-116	colon:	n/a	n/a
34	RAD21	chr2:110369209-110369597	HepG2	liver:	n/a	n/a
35	CTCF	chr2:110369260-110369410	SAEC	small airway:	n/a	n/a
36	CTCF	chr2:110369300-110369450	NB4	blood:	n/a	n/a
37	POLR2A	chr2:110369276-110373158	IMR90	lung:	n/a	n/a
38	CTCF	chr2:110369250-110369450	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr2:110369222-110369465	MCF-7	breast:	n/a	n/a
40	CEBPB	chr2:110369275-110369873	IMR90	lung:	n/a	n/a
41	CTCF	chr2:110369280-110369430	Hela-S3	cervix:	n/a	n/a
42	ZNF143	chr2:110369170-110369510	GM12878	blood:	n/a	n/a
43	CTCF	chr2:110369181-110369505	HepG2	liver:	n/a	n/a
44	CTCF	chr2:110369267-110369446	GM12878	blood:	n/a	n/a
45	CTCF	chr2:110369313-110369357	HepG2	liver:	n/a	n/a
46	CTCF	chr2:110369180-110369330	GM12865	blood:	n/a	n/a
47	CTCF	chr2:110369144-110369548	MCF-7	breast:	n/a	n/a
48	CTCF	chr2:110369150-110369549	GM12878	blood:	n/a	n/a
49	CTCF	chr2:110369320-110369470	AG10803	skin:	n/a	n/a
50	YY1	chr2:110369074-110369430	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:110369302..110370206-chr2:110472595..110473565,2	MCF-7	breast:
2	chr2:110362640..110365155-chr2:110368934..110372656,4	MCF-7	breast:
3	chr2:110368590..110369642-chr2:110420274..110420998,3	MCF-7	breast:
4	chr2:110368286..110370966-chr2:110371073..110372751,2	MCF-7	breast:

No data

Variant related genes	Relation type
SOWAHC	TF binding region
ENSG00000198142	Chromatin interaction
ENSG00000230696	Chromatin interaction
ENSG00000186522	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10195867	1.00[ASN][1000 genomes]
rs1036317	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1036318	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496432	1.00[ASN][1000 genomes]
rs13006297	1.00[ASN][1000 genomes]
rs13412327	1.00[ASN][1000 genomes]
rs1811388	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28441405	0.84[EUR][1000 genomes]
rs28445980	0.84[EUR][1000 genomes]
rs28464093	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28553892	1.00[ASN][1000 genomes]
rs28570680	1.00[ASN][1000 genomes]
rs28599496	0.96[ASN][1000 genomes]
rs28612440	0.84[EUR][1000 genomes]
rs28696274	0.85[EUR][1000 genomes]
rs28719680	0.83[EUR][1000 genomes]
rs3213866	1.00[ASN][1000 genomes]
rs34111852	0.85[EUR][1000 genomes]
rs34269507	1.00[ASN][1000 genomes]
rs34311530	1.00[ASN][1000 genomes]
rs34441132	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34517320	1.00[ASN][1000 genomes]
rs34821058	1.00[ASN][1000 genomes]
rs35120088	1.00[ASN][1000 genomes]
rs35223862	1.00[ASN][1000 genomes]
rs35392016	1.00[ASN][1000 genomes]
rs35955221	1.00[ASN][1000 genomes]
rs4482487	1.00[ASN][1000 genomes]
rs4953721	1.00[ASN][1000 genomes]
rs4953729	1.00[ASN][1000 genomes]
rs4953730	1.00[ASN][1000 genomes]
rs4953788	1.00[ASN][1000 genomes]
rs4953847	0.85[EUR][1000 genomes]
rs4953848	0.85[EUR][1000 genomes]
rs4953849	0.85[EUR][1000 genomes]
rs4953853	0.85[EUR][1000 genomes]
rs55794045	1.00[ASN][1000 genomes]
rs56265736	0.82[EUR][1000 genomes]
rs56794190	1.00[ASN][1000 genomes]
rs58031484	1.00[ASN][1000 genomes]
rs6594050	0.85[EUR][1000 genomes]
rs6594053	0.84[EUR][1000 genomes]
rs6594054	0.83[EUR][1000 genomes]
rs6709945	1.00[ASN][1000 genomes]
rs6719215	1.00[ASN][1000 genomes]
rs6725792	1.00[ASN][1000 genomes]
rs6737736	0.85[EUR][1000 genomes]
rs6751785	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6760577	0.84[EUR][1000 genomes]
rs72824788	1.00[ASN][1000 genomes]
rs72824789	0.96[ASN][1000 genomes]
rs72824796	1.00[ASN][1000 genomes]
rs72824800	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72824802	1.00[ASN][1000 genomes]
rs72826816	0.82[EUR][1000 genomes]
rs72826817	0.83[EUR][1000 genomes]
rs753492	1.00[ASN][1000 genomes]
rs7565483	1.00[ASN][1000 genomes]
rs7577865	1.00[ASN][1000 genomes]
rs9330317	1.00[ASN][1000 genomes]
rs9330321	1.00[ASN][1000 genomes]
rs9750931	1.00[ASN][1000 genomes]
rs9752531	1.00[ASN][1000 genomes]
rs9798179	1.00[ASN][1000 genomes]

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	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv482469	chr2:110302488-110452580	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1009367	chr2:110349178-110863354	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv829617	chr2:110359857-110380012	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	esv2762780	chr2:110367969-110462496	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110324000-110370400	Weak transcription	Esophagus	oesophagus
2	chr2:110329200-110369400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:110352800-110369400	Weak transcription	Brain Germinal Matrix	brain
4	chr2:110358800-110370200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:110359600-110369400	Weak transcription	Fetal Kidney	kidney
6	chr2:110359800-110370200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:110359800-110370600	Weak transcription	Brain Angular Gyrus	brain
8	chr2:110362400-110370200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:110362600-110370400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:110363800-110369800	Weak transcription	Right Ventricle	heart
11	chr2:110365600-110369400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:110366000-110370400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:110367000-110369400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:110367200-110369400	Weak transcription	Brain Substantia Nigra	brain
15	chr2:110367200-110370000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:110367600-110369400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:110367600-110369400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:110367600-110369400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:110367600-110369400	Weak transcription	Aorta	Aorta
20	chr2:110367600-110369400	Weak transcription	HSMMtube	muscle
21	chr2:110367600-110369600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:110367600-110369600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:110367600-110369800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:110367800-110369800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:110367800-110369800	Weak transcription	Fetal Intestine Large	intestine
26	chr2:110368000-110370200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:110368000-110370800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:110368200-110369400	Enhancers	Rectal Smooth Muscle	rectum
29	chr2:110368400-110369400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:110368400-110370200	Enhancers	Liver	Liver
31	chr2:110368400-110370200	Enhancers	Colon Smooth Muscle	Colon
32	chr2:110368600-110369400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:110368600-110369600	Flanking Active TSS	Hela-S3	cervix
34	chr2:110368600-110369800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:110368600-110371200	Active TSS	GM12878-XiMat	blood
36	chr2:110368800-110369400	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr2:110368800-110369400	Weak transcription	Brain Anterior Caudate	brain
38	chr2:110368800-110369400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr2:110368800-110369800	Enhancers	Fetal Heart	heart
40	chr2:110369000-110369400	Enhancers	Fetal Muscle Trunk	muscle
41	chr2:110369000-110369400	Enhancers	Placenta	Placenta
42	chr2:110369000-110369600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:110369000-110369600	Enhancers	Ovary	ovary
44	chr2:110369000-110370000	Flanking Active TSS	NHEK	skin
45	chr2:110369000-110370200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:110369000-110370200	Enhancers	Psoas Muscle	Psoas
47	chr2:110369000-110373000	Active TSS	NHLF	lung
48	chr2:110369000-110373800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:110369200-110369400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:110369200-110369400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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