Variant report

Variant	rs201208053
Chromosome Location	chr7:64498130-64498131
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:64498120-64498270	GM12873	blood:	n/a	n/a
2	CTCF	chr7:64498100-64498250	GM12864	blood:	n/a	n/a
3	CTCF	chr7:64498080-64498230	GM12870	blood:	n/a	n/a
4	CTCF	chr7:64498120-64498270	GM12869	blood:	n/a	n/a
5	CTCF	chr7:64498100-64498250	GM12874	blood:	n/a	n/a
6	CTCF	chr7:64498120-64498270	MCF-7	breast:	n/a	n/a
7	CTCF	chr7:64498120-64498270	GM12872	blood:	n/a	n/a
8	CTCF	chr7:64498120-64498270	HRPEpiC	eye:	n/a	n/a
9	CTCF	chr7:64498080-64498230	HEK293	kidney:	n/a	n/a
10	CTCF	chr7:64498040-64498190	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr7:64498100-64498250	SAEC	small airway:	n/a	n/a
12	CTCF	chr7:64498040-64498190	HVMF	connective:	n/a	n/a
13	CTCF	chr7:64498120-64498270	HRE	kidney:	n/a	n/a
14	TEAD4	chr7:64498118-64498534	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr7:64498060-64498210	K562	blood:	n/a	n/a
16	CTCF	chr7:64498100-64498250	GM12875	blood:	n/a	n/a
17	CTCF	chr7:64498060-64498210	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr7:64498080-64498230	HEEpiC	esophagus:	n/a	n/a
19	NRF1	chr7:64498035-64498841	SK-N-SH	brain:	n/a	chr7:64498603-64498612
20	CTCF	chr7:64498080-64498230	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr7:64498120-64498270	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr7:64498080-64498230	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr7:64498100-64498250	Caco-2	colon:	n/a	n/a
24	EBF1	chr7:64498123-64498382	GM12878	blood:	n/a	chr7:64498296-64498307
25	CTCF	chr7:64498120-64498270	HPAF	blood vessel:	n/a	n/a
26	CTCF	chr7:64498080-64498230	NB4	blood:	n/a	n/a
27	CTCF	chr7:64498080-64498230	MCF-7	breast:	n/a	n/a
28	CTCF	chr7:64498080-64498230	HMEC	breast:	n/a	n/a
29	ATF3	chr7:64498130-64498270	K562	blood:	n/a	n/a
30	ZNF384	chr7:64497991-64498266	K562	blood:	n/a	n/a
31	CTCF	chr7:64498020-64498290	BE2_C	brain:	n/a	n/a
32	CTCF	chr7:64498040-64498190	GM12867	blood:	n/a	n/a
33	CTCF	chr7:64498120-64498270	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr7:64498100-64498250	GM12866	blood:	n/a	n/a
35	CTCF	chr7:64497993-64498252	K562	blood:	n/a	n/a
36	CTCF	chr7:64498020-64498170	A549	lung:	n/a	n/a
37	CTCF	chr7:64498080-64498230	GM12873	blood:	n/a	n/a
38	SP1	chr7:64498095-64498561	GM12878	blood:	n/a	chr7:64498300-64498314 chr7:64498303-64498315 chr7:64498303-64498315
39	CTCF	chr7:64498040-64498190	GM12871	blood:	n/a	n/a
40	CTCF	chr7:64498040-64498190	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr7:64498080-64498230	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr7:64498120-64498270	GM12865	blood:	n/a	n/a
43	CTCF	chr7:64498051-64498270	K562	blood:	n/a	n/a
44	CTCF	chr7:64498100-64498250	GM06990	blood:	n/a	n/a
45	CTCF	chr7:64498120-64498270	BJ	skin:	n/a	n/a
46	MXI1	chr7:64497976-64500541	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr7:64498100-64498250	GM12872	blood:	n/a	n/a
48	CTCF	chr7:64498100-64498250	HA-sp	spinal cord:	n/a	n/a
49	CTCF	chr7:64498120-64498270	HAc	cerebellar:	n/a	n/a
50	CTCF	chr7:64498120-64498270	GM12864	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:64467103..64469967-chr7:64496870..64499849,2	K562	blood:
2	chr7:64253690..64256534-chr7:64497237..64499995,2	K562	blood:
3	chr7:64465739..64467675-chr7:64497142..64500012,3	MCF-7	breast:
4	chr7:64465846..64468983-chr7:64497347..64500243,4	MCF-7	breast:

No data

Variant related genes	Relation type
CCT6P3	TF binding region
ENSG00000239985	TF binding region
ENSG00000213462	Chromatin interaction
ENSG00000197008	Chromatin interaction
ENSG00000152926	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv888282	chr7:64299645-64511564	Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription 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 target site	24 gene(s)	inside rSNPs	diseases
7	esv3506582	chr7:64323055-64563984	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription 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	27 gene(s)	inside rSNPs	diseases
8	esv3506583	chr7:64323055-64563984	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv1019180	chr7:64329889-64512842	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv888283	chr7:64343985-64511564	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	esv2752165	chr7:64345822-65208605	Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
12	nsv888284	chr7:64406439-64562139	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv1033517	chr7:64443052-64942418	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
14	nsv538893	chr7:64443052-64942418	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
15	nsv1034625	chr7:64456197-64850413	Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
16	nsv1019089	chr7:64456197-64874187	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
17	nsv1023699	chr7:64456197-64942418	Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
18	nsv517778	chr7:64462326-65326821	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
19	nsv429767	chr7:64473713-65415647	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
20	nsv917231	chr7:64478253-65300317	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
21	esv34341	chr7:64478386-65012082	Bivalent/Poised TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
22	esv2752166	chr7:64478386-65208605	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
23	nsv1029796	chr7:64494934-65302696	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
24	esv3393496	chr7:64497342-64499890	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
25	esv3398872	chr7:64497667-64499790	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64493800-64498200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:64493800-64498600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:64496200-64498200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr7:64496600-64498200	Weak transcription	Right Atrium	heart
5	chr7:64496600-64498200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:64496600-64498200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr7:64496800-64498600	Weak transcription	Primary B cells from cord blood	blood
8	chr7:64497000-64498200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:64497000-64498200	Enhancers	Adipose Nuclei	Adipose
10	chr7:64497000-64498400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr7:64497000-64498600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:64497000-64498800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:64497200-64498200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:64497800-64498200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr7:64497800-64498200	Enhancers	Fetal Stomach	stomach
16	chr7:64497800-64498400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr7:64498000-64498200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr7:64498000-64498200	Enhancers	Brain Hippocampus Middle	brain
19	chr7:64498000-64498200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr7:64498000-64498200	Enhancers	Fetal Intestine Large	intestine
21	chr7:64498000-64498400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:64498000-64498400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr7:64498000-64498400	Flanking Active TSS	Placenta	Placenta
24	chr7:64498000-64498400	Flanking Active TSS	Dnd41	blood
25	chr7:64498000-64498400	Flanking Active TSS	K562	blood
26	chr7:64498000-64498600	Enhancers	Primary B cells from peripheral blood	blood
27	chr7:64498000-64498600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:64498000-64498800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:64498000-64499400	Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr7:64498000-64499400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:64498000-64499400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:64498000-64499400	Active TSS	HepG2	liver
33	chr7:64498000-64499600	Active TSS	Colon Smooth Muscle	Colon
34	chr7:64498000-64499800	Active TSS	Brain Angular Gyrus	brain
35	chr7:64498000-64499800	Active TSS	Brain Cingulate Gyrus	brain
36	chr7:64498000-64500000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:64498000-64500000	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr7:64498000-64500000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:64498000-64500000	Active TSS	Brain Anterior Caudate	brain
40	chr7:64498000-64500200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:64498000-64500200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:64498000-64500400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:64498000-64500400	Active TSS	Brain Inferior Temporal Lobe	brain

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