Variant report

Variant	rs141790162
Chromosome Location	chr14:78119932-78119933
allele	A/G
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	chr14:78119920-78120070	NHDF-neo	bronchial:	n/a	chr14:78119998-78120011
2	CTCF	chr14:78119920-78120070	MCF-7	breast:	n/a	chr14:78119998-78120011
3	CTCF	chr14:78119924-78120075	GM13977	blood:	n/a	chr14:78119998-78120011
4	CTCF	chr14:78119920-78120070	AG04449	skin:	n/a	chr14:78119998-78120011
5	RAD21	chr14:78119803-78120307	H1-hESC	embryonic stem cell:	n/a	chr14:78119997-78120011 chr14:78120045-78120057
6	CTCF	chr14:78119920-78120070	GM12871	blood:	n/a	chr14:78119998-78120011
7	CTCF	chr14:78119920-78120070	HepG2	liver:	n/a	chr14:78119998-78120011
8	CTCF	chr14:78119920-78120070	HCM	heart:	n/a	chr14:78119998-78120011
9	CTCF	chr14:78119924-78120085	MCF-7	breast:	n/a	chr14:78119998-78120011
10	CTCF	chr14:78119900-78120050	GM06990	blood:	n/a	chr14:78119998-78120011
11	CTCF	chr14:78119920-78120070	SK-N-SH_RA	brain:	n/a	chr14:78119998-78120011
12	CTCF	chr14:78119900-78120050	HVMF	connective:	n/a	chr14:78119998-78120011
13	RAD21	chr14:78119897-78120056	K562	blood:	n/a	chr14:78119997-78120011
14	RAD21	chr14:78119759-78120252	MCF-7	breast:	n/a	chr14:78119997-78120011 chr14:78120045-78120057
15	CTCF	chr14:78119778-78120204	H1-hESC	embryonic stem cell:	n/a	chr14:78119998-78120011
16	CTCF	chr14:78119906-78120076	HepG2	liver:	n/a	chr14:78119998-78120011
17	CTCF	chr14:78119902-78120117	Fibrobl	skin:	n/a	chr14:78119998-78120011
18	CTCF	chr14:78119900-78120050	RPTEC	kidney:	n/a	chr14:78119998-78120011
19	CTCF	chr14:78119880-78120030	GM12873	blood:	n/a	chr14:78119998-78120011
20	CTCF	chr14:78119900-78120050	SAEC	small airway:	n/a	chr14:78119998-78120011
21	CTCF	chr14:78119830-78120152	K562	blood:	n/a	chr14:78119998-78120011
22	SPI1	chr14:78119805-78119957	K562	blood:	n/a	n/a
23	CTCF	chr14:78119880-78120030	SAEC	small airway:	n/a	chr14:78119998-78120011
24	YY1	chr14:78119913-78120148	K562	blood:	n/a	n/a
25	CTCF	chr14:78119920-78120070	AG09309	skin:	n/a	chr14:78119998-78120011
26	CTCF	chr14:78119920-78120070	HEEpiC	esophagus:	n/a	chr14:78119998-78120011
27	CTCF	chr14:78119813-78120149	H1-hESC	embryonic stem cell:	n/a	chr14:78119998-78120011
28	RAD21	chr14:78119767-78120156	H1-hESC	embryonic stem cell:	n/a	chr14:78119997-78120011 chr14:78120045-78120057
29	CTCF	chr14:78119831-78120177	K562	blood:	n/a	chr14:78119998-78120011
30	ZNF263	chr14:78119849-78120626	HEK293-T-REx	kidney:	n/a	n/a
31	CTCF	chr14:78119704-78120226	K562	blood:	n/a	chr14:78119998-78120011
32	CTCF	chr14:78119919-78120081	MCF-7	breast:	n/a	chr14:78119998-78120011
33	CTCF	chr14:78119900-78120050	GM12866	blood:	n/a	chr14:78119998-78120011
34	CTCF	chr14:78119880-78120030	K562	blood:	n/a	chr14:78119998-78120011
35	CTCF	chr14:78119900-78120050	HPF	lung:	n/a	chr14:78119998-78120011
36	CTCF	chr14:78119880-78120030	HEK293	kidney:	n/a	chr14:78119998-78120011
37	CTCF	chr14:78119880-78120030	GM12864	blood:	n/a	chr14:78119998-78120011
38	CTCF	chr14:78119880-78120030	GM12867	blood:	n/a	chr14:78119998-78120011
39	ZNF143	chr14:78119845-78120213	H1-hESC	embryonic stem cell:	n/a	chr14:78120028-78120046
40	CTCF	chr14:78119836-78120099	HepG2	liver:	n/a	chr14:78119998-78120011
41	CTCF	chr14:78119900-78120050	AG10803	skin:	n/a	chr14:78119998-78120011
42	CTCF	chr14:78119920-78120070	Hela-S3	cervix:	n/a	chr14:78119998-78120011
43	CTCF	chr14:78119921-78120077	Hela-S3	cervix:	n/a	chr14:78119998-78120011
44	CTCF	chr14:78119900-78120050	NHEK	skin:	n/a	chr14:78119998-78120011
45	CTCF	chr14:78119920-78120070	Caco-2	colon:	n/a	chr14:78119998-78120011
46	RAD21	chr14:78119850-78120128	IMR90	lung:	n/a	chr14:78119997-78120011 chr14:78120045-78120057
47	CTCF	chr14:78119912-78120111	MCF-7	breast:	n/a	chr14:78119998-78120011
48	CTCF	chr14:78119920-78120070	GM12873	blood:	n/a	chr14:78119998-78120011
49	CTCF	chr14:78119900-78120050	HCPEpiC	choroid plexus:	n/a	chr14:78119998-78120011
50	CTCF	chr14:78119880-78120030	GM12872	blood:	n/a	chr14:78119998-78120011

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78081876..78084095-chr14:78119324..78121053,2	MCF-7	breast:
2	chr14:78116603..78122891-chr14:78172785..78176058,7	MCF-7	breast:

Variant related genes	Relation type
COX6CP11	TF binding region
ENSG00000100596	Chromatin interaction
ENSG00000100601	Chromatin interaction
ENSG00000119705	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	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1051554	chr14:78004196-78122980	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv9155	chr14:78118162-78133830	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv32836	chr14:78119497-78124958	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv869872	chr14:78119527-78161340	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78115400-78120000	Weak transcription	Fetal Intestine Large	intestine
2	chr14:78115600-78120000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr14:78115600-78120800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:78118400-78120200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:78119600-78120200	Enhancers	K562	blood
6	chr14:78119600-78122000	Enhancers	Pancreas	Pancrea
7	chr14:78119600-78123200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr14:78119800-78120200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr14:78119800-78120200	Flanking Active TSS	HepG2	liver
10	chr14:78119800-78120800	Enhancers	Placenta	Placenta
11	chr14:78119800-78121200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:78119800-78121400	Enhancers	Primary hematopoietic stem cells	blood
13	chr14:78119800-78121400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr14:78119800-78121400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:78119800-78121800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:78119800-78122000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:78119800-78122000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr14:78119800-78125400	Enhancers	Adipose Nuclei	Adipose

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