Variant report

Variant	rs563845199
Chromosome Location	chr1:78153355-78153356
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:78153300-78153450	GM06990	blood:	n/a	n/a
2	CTCF	chr1:78153300-78153450	HFF-Myc	foreskin:	n/a	n/a
3	RAD21	chr1:78153325-78153596	A549	lung:	n/a	n/a
4	CTCF	chr1:78153340-78153490	GM12867	blood:	n/a	n/a
5	CTCF	chr1:78153320-78153470	GM12873	blood:	n/a	n/a
6	CTCF	chr1:78153340-78153490	NHDF-neo	bronchial:	n/a	n/a
7	TEAD4	chr1:78153160-78153812	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr1:78153340-78153490	AG04450	lung:	n/a	n/a
9	CTCF	chr1:78153320-78153470	HRPEpiC	eye:	n/a	n/a
10	CTCF	chr1:78153331-78153580	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr1:78153320-78153470	AG09319	gingival:	n/a	n/a
12	RAD21	chr1:78153245-78153599	HepG2	liver:	n/a	n/a
13	POLR2A	chr1:78153188-78153500	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr1:78153275-78153652	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:78153189-78153525	ECC-1	luminal epithelium:	n/a	n/a
16	CTCF	chr1:78153340-78153490	AG10803	skin:	n/a	n/a
17	MAX	chr1:78153268-78153632	H1-hESC	embryonic stem cell:	n/a	n/a
18	TBP	chr1:78153025-78153563	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr1:78153320-78153470	HCFaa	heart:	n/a	n/a
20	TEAD4	chr1:78153232-78153819	H1-hESC	embryonic stem cell:	n/a	n/a
21	HEY1	chr1:78153261-78153438	HepG2	liver:	n/a	n/a
22	CTCF	chr1:78153340-78153490	HRPEpiC	eye:	n/a	n/a
23	CTCF	chr1:78153300-78153450	HCT-116	colon:	n/a	n/a
24	CTCF	chr1:78153340-78153490	NHEK	skin:	n/a	n/a
25	CTCF	chr1:78153340-78153490	MCF-7	breast:	n/a	n/a
26	JUND	chr1:78153271-78153469	H1-hESC	embryonic stem cell:	n/a	chr1:78153410-78153419 chr1:78153405-78153414
27	CTCF	chr1:78153311-78153501	HepG2	liver:	n/a	n/a
28	CTCF	chr1:78153300-78153450	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr1:78153320-78153470	BJ	skin:	n/a	n/a
30	CTCF	chr1:78153320-78153470	RPTEC	kidney:	n/a	n/a
31	CTCF	chr1:78153300-78153450	WERI-Rb-1	eye:	n/a	n/a
32	RAD21	chr1:78153277-78153616	H1-hESC	embryonic stem cell:	n/a	n/a
33	EGR1	chr1:78153204-78153546	H1-hESC	embryonic stem cell:	n/a	chr1:78153400-78153410 chr1:78153409-78153419 chr1:78153408-78153418 chr1:78153410-78153423
34	CTCF	chr1:78153320-78153470	GM12874	blood:	n/a	n/a
35	CHD2	chr1:78153277-78153581	H1-hESC	embryonic stem cell:	n/a	chr1:78153407-78153417
36	CTCF	chr1:78153340-78153490	GM12871	blood:	n/a	n/a
37	YY1	chr1:78153271-78153547	H1-hESC	embryonic stem cell:	n/a	chr1:78153409-78153418 chr1:78153398-78153409 chr1:78153404-78153418
38	SP1	chr1:78153201-78153609	H1-hESC	embryonic stem cell:	n/a	chr1:78153408-78153422 chr1:78153408-78153418 chr1:78153408-78153418 chr1:78153407-78153418 chr1:78153407-78153419 chr1:78153408-78153417 chr1:78153409-78153418 chr1:78153407-78153419 chr1:78153408-78153417
39	ZNF143	chr1:78152584-78153589	H1-hESC	embryonic stem cell:	n/a	n/a
40	SP1	chr1:78153226-78153547	H1-hESC	embryonic stem cell:	n/a	chr1:78153408-78153422 chr1:78153408-78153418 chr1:78153408-78153418 chr1:78153407-78153418 chr1:78153407-78153419 chr1:78153408-78153417 chr1:78153409-78153418 chr1:78153407-78153419 chr1:78153408-78153417
41	CTCF	chr1:78153300-78153450	HFF	foreskin:	n/a	n/a
42	EP300	chr1:78153202-78153565	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr1:78153174-78153526	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr1:78153284-78153748	A549	lung:	n/a	n/a
45	CTCF	chr1:78153340-78153490	RPTEC	kidney:	n/a	n/a
46	CTCF	chr1:78153341-78153576	NHEK	skin:	n/a	n/a
47	CTCF	chr1:78153300-78153450	AG09309	skin:	n/a	n/a
48	CTCF	chr1:78153340-78153490	GM12865	blood:	n/a	n/a
49	EGR1	chr1:78153260-78153536	H1-hESC	embryonic stem cell:	n/a	chr1:78153400-78153410 chr1:78153409-78153419 chr1:78153408-78153418 chr1:78153410-78153423
50	POLR2A	chr1:78152921-78153720	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:78148636..78150222-chr1:78153007..78155635,3	MCF-7	breast:
2	chr1:78147916..78149547-chr1:78151862..78154484,2	MCF-7	breast:
3	chr1:78150914..78153442-chr1:78165603..78168568,2	K562	blood:

Variant related genes	Relation type
ZZZ3	TF binding region
ENSG00000036549	Chromatin interaction
ENSG00000077254	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3337461	chr1:78036000-78153859	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
7	esv1796958	chr1:78138955-78267421	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	esv1798160	chr1:78149941-78267421	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv946004	chr1:78152199-78160377	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3348629	chr1:78152214-78154612	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78149600-78175000	Weak transcription	Gastric	stomach
2	chr1:78149600-78177800	Weak transcription	Spleen	Spleen
3	chr1:78149800-78153400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:78149800-78157400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:78149800-78157600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:78149800-78158800	Weak transcription	Left Ventricle	heart
7	chr1:78149800-78159800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr1:78149800-78165600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:78149800-78165600	Weak transcription	Esophagus	oesophagus
10	chr1:78149800-78165600	Weak transcription	Lung	lung
11	chr1:78149800-78171800	Weak transcription	Fetal Brain Male	brain
12	chr1:78149800-78173000	Weak transcription	Colonic Mucosa	Colon
13	chr1:78149800-78173800	Weak transcription	Aorta	Aorta
14	chr1:78149800-78178000	Weak transcription	Small Intestine	intestine
15	chr1:78150000-78153400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr1:78150000-78153400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:78150000-78153400	Weak transcription	Fetal Kidney	kidney
18	chr1:78150000-78153400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr1:78150000-78158600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:78150000-78158800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:78150000-78158800	Weak transcription	Fetal Brain Female	brain
22	chr1:78150000-78160800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:78150000-78160800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:78150000-78161600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:78150000-78162000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:78150000-78163000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:78150000-78165200	Weak transcription	Brain Angular Gyrus	brain
28	chr1:78150000-78166000	Weak transcription	HSMMtube	muscle
29	chr1:78150000-78172800	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:78150000-78173000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr1:78150000-78173000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr1:78150000-78173600	Weak transcription	Psoas Muscle	Psoas
33	chr1:78150000-78174000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr1:78150000-78175600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:78150200-78153400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr1:78150200-78153400	Weak transcription	Liver	Liver
37	chr1:78150200-78153400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:78150200-78153400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr1:78150200-78153400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:78150200-78154600	Weak transcription	GM12878-XiMat	blood
41	chr1:78150200-78155000	Weak transcription	Primary T cells from cord blood	blood
42	chr1:78150200-78157400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:78150200-78157600	Weak transcription	Osteobl	bone
44	chr1:78150200-78158000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:78150200-78158000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:78150200-78158800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:78150200-78158800	Weak transcription	HSMM	muscle
48	chr1:78150200-78159800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:78150200-78160800	Weak transcription	Brain Germinal Matrix	brain
50	chr1:78150200-78160800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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