Variant report

Variant	rs568580399
Chromosome Location	chr7:121038621-121038622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:132)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:132 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:121038540-121038690	HVMF	connective:	n/a	n/a
2	CTCF	chr7:121038520-121038670	GM12864	blood:	n/a	n/a
3	CTCF	chr7:121038480-121038630	HMF	breast:	n/a	n/a
4	CTCF	chr7:121038520-121038670	AG04450	lung:	n/a	n/a
5	SMC3	chr7:121038237-121038860	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr7:121038500-121038650	SAEC	small airway:	n/a	n/a
7	CTCF	chr7:121038480-121038630	MCF-7	breast:	n/a	n/a
8	CTCF	chr7:121038500-121038650	GM12872	blood:	n/a	n/a
9	CTCF	chr7:121038520-121038670	GM12871	blood:	n/a	n/a
10	CTCF	chr7:121038277-121038747	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr7:121038491-121038662	Gliobla	brain:	n/a	n/a
12	CTCF	chr7:121038520-121038670	HPAF	blood vessel:	n/a	n/a
13	CTCF	chr7:121038540-121038690	A549	lung:	n/a	n/a
14	CTCF	chr7:121038507-121038628	K562	blood:	n/a	n/a
15	CTCF	chr7:121038516-121038637	NHEK	skin:	n/a	n/a
16	CTCF	chr7:121038518-121038622	GM10266	blood:	n/a	n/a
17	CTCF	chr7:121038520-121038670	AG09319	gingival:	n/a	n/a
18	CTCF	chr7:121038482-121038708	IMR90	lung:	n/a	n/a
19	CTCF	chr7:121038451-121038687	MCF-7	breast:	n/a	n/a
20	CTCF	chr7:121038397-121038650	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr7:121038507-121038675	Fibrobl	skin:	n/a	n/a
22	CTCF	chr7:121038500-121038650	BE2_C	brain:	n/a	n/a
23	RCOR1	chr7:121038445-121038625	K562	blood:	n/a	n/a
24	CTCF	chr7:121038480-121038630	HEK293	kidney:	n/a	n/a
25	RAD21	chr7:121038401-121038688	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr7:121038359-121038787	MCF-7	breast:	n/a	n/a
27	CTCF	chr7:121038520-121038670	GM12873	blood:	n/a	n/a
28	CTCF	chr7:121038515-121038649	GM19238	blood:	n/a	n/a
29	POLR2A	chr7:121038250-121038665	HCT-116	colon:	n/a	n/a
30	RAD21	chr7:121038400-121038706	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr7:121038480-121038630	NHLF	lung:	n/a	n/a
32	CTCF	chr7:121038500-121038650	Caco-2	colon:	n/a	n/a
33	RAD21	chr7:121038442-121038645	GM12878	blood:	n/a	n/a
34	CTCF	chr7:121038411-121038679	A549	lung:	n/a	n/a
35	CTCF	chr7:121038539-121038646	GM12891	blood:	n/a	n/a
36	CTCF	chr7:121038462-121038648	Pancreas_OC	pancreas:	n/a	n/a
37	CTCF	chr7:121038488-121038671	GM12878	blood:	n/a	n/a
38	CTCF	chr7:121038520-121038670	HA-sp	spinal cord:	n/a	n/a
39	BHLHE40	chr7:121038236-121038664	HepG2	liver:	n/a	n/a
40	CTCF	chr7:121038480-121038630	GM12872	blood:	n/a	n/a
41	CTCF	chr7:121038500-121038650	AG04450	lung:	n/a	n/a
42	RAD21	chr7:121038312-121038745	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr7:121038500-121038650	GM12874	blood:	n/a	n/a
44	SMC3	chr7:121038366-121038688	HepG2	liver:	n/a	n/a
45	CTCF	chr7:121038500-121038650	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chr7:121038480-121038630	AG09309	skin:	n/a	n/a
47	CTCF	chr7:121038480-121038630	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr7:121038540-121038690	HCT-116	colon:	n/a	n/a
49	CTCF	chr7:121038520-121038670	NHEK	skin:	n/a	n/a
50	CTCF	chr7:121038500-121038650	GM12868	blood:	n/a	n/a

No data

Variant related genes	Relation type
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:19 , 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	chr7:121037000-121038800	Enhancers	Fetal Intestine Large	intestine
5	chr7:121037000-121039000	Enhancers	Fetal Intestine Small	intestine
6	chr7:121037000-121040600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:121037000-121041000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:121037000-121041400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:121037000-121041400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:121037000-121041600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:121037000-121042000	Weak transcription	NHDF-Ad	bronchial
12	chr7:121037000-121042600	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:121038200-121038800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:121038200-121038800	Enhancers	Fetal Kidney	kidney
15	chr7:121038400-121038800	Enhancers	Duodenum Mucosa	Duodenum
16	chr7:121038400-121038800	Enhancers	Pancreas	Pancrea
17	chr7:121038600-121038800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr7:121038600-121038800	Enhancers	Brain Hippocampus Middle	brain
19	chr7:121038600-121039000	Enhancers	Liver	Liver

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