Variant report

Variant	rs549242506
Chromosome Location	chr7:64029976-64029977
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:62)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:62 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:64029960-64030110	HAc	cerebellar:	n/a	n/a
2	CTCF	chr7:64029869-64030012	Fibrobl	skin:	n/a	n/a
3	CTCF	chr7:64029880-64030030	HRE	kidney:	n/a	n/a
4	CTCF	chr7:64029853-64030043	NHEK	skin:	n/a	n/a
5	CTCF	chr7:64029869-64030011	GM19238	blood:	n/a	n/a
6	CTCF	chr7:64029856-64030014	Lung_OC	lung:	n/a	n/a
7	CTCF	chr7:64029840-64029990	SAEC	small airway:	n/a	n/a
8	CTCF	chr7:64029860-64030010	NHLF	lung:	n/a	n/a
9	CTCF	chr7:64029856-64030010	ProgFib	skin:	n/a	n/a
10	CTCF	chr7:64029860-64030010	HAc	cerebellar:	n/a	n/a
11	CTCF	chr7:64029860-64030010	HCFaa	heart:	n/a	n/a
12	MAX	chr7:64029879-64029981	GM12878	blood:	n/a	n/a
13	CTCF	chr7:64029840-64029990	AG10803	skin:	n/a	n/a
14	CTCF	chr7:64029860-64030010	HUVEC	blood vessel:	n/a	n/a
15	CTCF	chr7:64029840-64029990	HUVEC	blood vessel:	n/a	n/a
16	CTCF	chr7:64029920-64030070	HEEpiC	esophagus:	n/a	n/a
17	CTCF	chr7:64029860-64030010	HMEC	breast:	n/a	n/a
18	CTCF	chr7:64029840-64029990	AG04449	skin:	n/a	n/a
19	CTCF	chr7:64029860-64030010	HBMEC	blood vessel:	n/a	n/a
20	CTCF	chr7:64029840-64029990	HBMEC	blood vessel:	n/a	n/a
21	CTCF	chr7:64029795-64030008	GM12878	blood:	n/a	n/a
22	CTCF	chr7:64029880-64030030	GM12870	blood:	n/a	n/a
23	CTCF	chr7:64029860-64030010	NHEK	skin:	n/a	n/a
24	RAD21	chr7:64029827-64029985	IMR90	lung:	n/a	n/a
25	CTCF	chr7:64029840-64029990	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr7:64029738-64030082	IMR90	lung:	n/a	chr7:64029769-64029787
27	CTCF	chr7:64029900-64030050	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr7:64029880-64030030	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr7:64029960-64030110	HFF-Myc	foreskin:	n/a	n/a
30	CTCF	chr7:64029880-64030030	HCPEpiC	choroid plexus:	n/a	n/a
31	CTCF	chr7:64029920-64030070	HL-60	blood:	n/a	n/a
32	CTCF	chr7:64029840-64029990	NHEK	skin:	n/a	n/a
33	CTCF	chr7:64029880-64030030	GM12871	blood:	n/a	n/a
34	CTCF	chr7:64029880-64030030	HPF	lung:	n/a	n/a
35	CTCF	chr7:64029900-64030050	SAEC	small airway:	n/a	n/a
36	CTCF	chr7:64029860-64030010	AG09309	skin:	n/a	n/a
37	SIN3AK20	chr7:64029740-64030389	PANC-1	pancreas:	n/a	n/a
38	CTCF	chr7:64029860-64030010	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr7:64029880-64030030	AG10803	skin:	n/a	n/a
40	CTCF	chr7:64029840-64029990	HVMF	connective:	n/a	n/a
41	CTCF	chr7:64029840-64029990	AG09319	gingival:	n/a	n/a
42	CTCF	chr7:64029880-64030030	HVMF	connective:	n/a	n/a
43	CTCF	chr7:64029840-64029990	RPTEC	kidney:	n/a	n/a
44	CTCF	chr7:64029880-64030030	BJ	skin:	n/a	n/a
45	CTCF	chr7:64029784-64029993	Medullo	brain:	n/a	n/a
46	CTCF	chr7:64029880-64030030	AG09319	gingival:	n/a	n/a
47	CTCF	chr7:64029860-64030010	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr7:64029862-64029993	Spleen_OC	spleen:	n/a	n/a
49	CTCF	chr7:64029860-64030010	AG04449	skin:	n/a	n/a
50	CTCF	chr7:64029840-64029990	HPF	lung:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000235349	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429759	chr7:63662150-64110550	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv429760	chr7:63687850-64110550	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS 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 miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv429761	chr7:63747498-64096138	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv2764000	chr7:63766980-64275251	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
7	nsv429762	chr7:63790450-64110550	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
9	nsv1031703	chr7:63839601-64225952	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
10	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
11	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
12	nsv1023042	chr7:63956027-64116232	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv888271	chr7:63961212-64295884	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
14	nsv888273	chr7:63990100-64291622	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
15	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
16	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
17	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
18	nsv1021893	chr7:63995601-64155027	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
19	nsv538892	chr7:63995601-64155027	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
20	nsv888277	chr7:64023581-64054804	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	esv3321696	chr7:64029742-64032290	Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64029400-64030400	Enhancers	Lung	lung
2	chr7:64029400-64030800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:64029400-64030800	Active TSS	Brain Anterior Caudate	brain
4	chr7:64029400-64031200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:64029600-64030000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:64029600-64030000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr7:64029600-64030000	ZNF genes & repeats	Liver	Liver
8	chr7:64029600-64030000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
9	chr7:64029600-64030000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
10	chr7:64029600-64030000	Enhancers	Fetal Heart	heart
11	chr7:64029600-64030000	Bivalent Enhancer	Placenta	Placenta
12	chr7:64029600-64030000	Bivalent/Poised TSS	NH-A	brain
13	chr7:64029600-64030200	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr7:64029600-64030200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
15	chr7:64029600-64030200	Bivalent Enhancer	Fetal Brain Male	brain
16	chr7:64029600-64030400	Bivalent/Poised TSS	Fetal Brain Female	brain
17	chr7:64029600-64030600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr7:64029600-64030600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:64029600-64030600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
20	chr7:64029600-64030600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:64029600-64030600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:64029600-64030600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
23	chr7:64029600-64030800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:64029600-64030800	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr7:64029600-64030800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
26	chr7:64029600-64030800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr7:64029600-64030800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:64029600-64030800	Active TSS	Brain Substantia Nigra	brain
29	chr7:64029600-64030800	Active TSS	Colon Smooth Muscle	Colon
30	chr7:64029600-64030800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr7:64029600-64030800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
32	chr7:64029600-64030800	Active TSS	Rectal Smooth Muscle	rectum
33	chr7:64029600-64031000	Active TSS	Right Ventricle	heart
34	chr7:64029600-64031200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr7:64029600-64031200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr7:64029800-64030000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:64029800-64030000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:64029800-64030000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
39	chr7:64029800-64030000	Active TSS	Primary hematopoietic stem cells	blood
40	chr7:64029800-64030000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:64029800-64030000	Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr7:64029800-64030000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
43	chr7:64029800-64030000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:64029800-64030000	Active TSS	Muscle Satellite Cultured Cells	--
45	chr7:64029800-64030000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:64029800-64030000	Active TSS	Gastric	stomach
47	chr7:64029800-64030000	Flanking Active TSS	Ovary	ovary
48	chr7:64029800-64030000	Bivalent Enhancer	Stomach Mucosa	stomach
49	chr7:64029800-64030000	Flanking Bivalent TSS/Enh	Spleen	Spleen
50	chr7:64029800-64030200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood

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