Variant report

Variant	rs546535872
Chromosome Location	chr7:121038440-121038441
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:121038420-121038570	HFF-Myc	foreskin:	n/a	n/a
2	SMC3	chr7:121038237-121038860	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr7:121038400-121038550	HFF	foreskin:	n/a	n/a
4	CTCF	chr7:121038277-121038747	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr7:121038397-121038650	SK-N-SH_RA	brain:	n/a	n/a
6	RAD21	chr7:121038401-121038688	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr7:121038359-121038787	MCF-7	breast:	n/a	n/a
8	POLR2A	chr7:121038250-121038665	HCT-116	colon:	n/a	n/a
9	RAD21	chr7:121038400-121038706	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr7:121038411-121038679	A549	lung:	n/a	n/a
11	CTCF	chr7:121038440-121038590	HL-60	blood:	n/a	n/a
12	BHLHE40	chr7:121038236-121038664	HepG2	liver:	n/a	n/a
13	CTCF	chr7:121038440-121038590	GM12873	blood:	n/a	n/a
14	RAD21	chr7:121038312-121038745	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr7:121038420-121038570	Caco-2	colon:	n/a	n/a
16	SMC3	chr7:121038366-121038688	HepG2	liver:	n/a	n/a
17	RAD21	chr7:121038409-121038673	GM12878	blood:	n/a	n/a
18	CTCF	chr7:121038420-121038570	GM12867	blood:	n/a	n/a
19	RAD21	chr7:121038387-121038668	HepG2	liver:	n/a	n/a
20	YY1	chr7:121038279-121038640	HCT-116	colon:	n/a	n/a
21	SMC3	chr7:121038406-121038722	GM12878	blood:	n/a	n/a
22	CTCF	chr7:121038438-121038658	K562	blood:	n/a	n/a
23	RAD21	chr7:121038400-121038677	HepG2	liver:	n/a	n/a
24	RAD21	chr7:121038262-121038845	SK-N-SH	brain:	n/a	n/a
25	SP1	chr7:121037956-121038761	HCT-116	colon:	n/a	chr7:121038057-121038071
26	CTCF	chr7:121038373-121038654	H1-hESC	embryonic stem cell:	n/a	n/a
27	TCF7L2	chr7:121038334-121038639	PANC-1	pancreas:	n/a	n/a
28	SMC3	chr7:121038401-121038632	K562	blood:	n/a	n/a
29	CTCF	chr7:121038391-121038727	GM12878	blood:	n/a	n/a
30	CTCF	chr7:121038150-121038711	K562	blood:	n/a	n/a
31	CTCF	chr7:121038440-121038590	GM12874	blood:	n/a	n/a
32	CTCF	chr7:121038420-121038570	HEEpiC	esophagus:	n/a	n/a
33	ARID3A	chr7:121037989-121038599	HepG2	liver:	n/a	n/a
34	RAD21	chr7:121038361-121038752	H1-hESC	embryonic stem cell:	n/a	n/a
35	BHLHE40	chr7:121038319-121038590	K562	blood:	n/a	n/a
36	CTCF	chr7:121038420-121038570	WERI-Rb-1	eye:	n/a	n/a
37	RAD21	chr7:121038156-121038791	HCT-116	colon:	n/a	n/a
38	RAD21	chr7:121038299-121038697	MCF-7	breast:	n/a	n/a
39	MAX	chr7:121038187-121038786	HCT-116	colon:	n/a	n/a
40	RAD21	chr7:121038361-121038742	HepG2	liver:	n/a	n/a
41	CTCF	chr7:121038201-121038930	A549	lung:	n/a	n/a
42	CTCF	chr7:121038440-121038590	AG10803	skin:	n/a	n/a
43	RAD21	chr7:121038404-121038712	H1-hESC	embryonic stem cell:	n/a	n/a
44	USF2	chr7:121038369-121038452	HepG2	liver:	n/a	n/a
45	CTCF	chr7:121038440-121038590	HVMF	connective:	n/a	n/a

No data

Variant related genes	Relation type
CYCSP19	TF binding region
FAM3C	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats 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
8	nsv428507	chr7:121037303-121191934	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv966879	chr7:121037613-121041162	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121036800-121038800	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr7:121036800-121041400	Weak transcription	HSMM	muscle
3	chr7:121036800-121043800	Weak transcription	Ovary	ovary
4	chr7:121037000-121038600	Enhancers	Stomach Mucosa	stomach
5	chr7:121037000-121038800	Enhancers	Fetal Intestine Large	intestine
6	chr7:121037000-121039000	Enhancers	Fetal Intestine Small	intestine
7	chr7:121037000-121040600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:121037000-121041000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:121037000-121041400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:121037000-121041400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:121037000-121041600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:121037000-121042000	Weak transcription	NHDF-Ad	bronchial
13	chr7:121037000-121042600	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:121037800-121038600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr7:121038000-121038600	Active TSS	Liver	Liver
16	chr7:121038000-121038600	Active TSS	HepG2	liver
17	chr7:121038200-121038800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:121038200-121038800	Enhancers	Fetal Kidney	kidney
19	chr7:121038400-121038600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:121038400-121038600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr7:121038400-121038600	Enhancers	Brain Substantia Nigra	brain
22	chr7:121038400-121038800	Enhancers	Duodenum Mucosa	Duodenum
23	chr7:121038400-121038800	Enhancers	Pancreas	Pancrea

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