Variant report

Variant	rs7401326
Chromosome Location	chr14:78121359-78121360
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	chr14:78121255-78121718	H1-hESC	embryonic stem cell:	n/a	chr14:78121501-78121522 chr14:78121504-78121512 chr14:78121499-78121517
2	CTCF	chr14:78121312-78121605	SK-N-SH_RA	brain:	n/a	chr14:78121501-78121522 chr14:78121504-78121512 chr14:78121499-78121517
3	RAD21	chr14:78121227-78121768	H1-hESC	embryonic stem cell:	n/a	chr14:78121500-78121519
4	RAD21	chr14:78121157-78121938	MCF-7	breast:	n/a	chr14:78121500-78121519
5	RAD21	chr14:78121295-78121768	Hela-S3	cervix:	n/a	chr14:78121500-78121519
6	RAD21	chr14:78121143-78121870	HCT-116	colon:	n/a	chr14:78121500-78121519
7	RAD21	chr14:78121270-78121741	HepG2	liver:	n/a	chr14:78121500-78121519
8	RAD21	chr14:78121319-78121699	GM12878	blood:	n/a	chr14:78121500-78121519
9	CTCF	chr14:78121197-78121808	A549	lung:	n/a	chr14:78121501-78121522 chr14:78121504-78121512 chr14:78121499-78121517
10	RAD21	chr14:78121257-78121727	HepG2	liver:	n/a	chr14:78121500-78121519
11	RAD21	chr14:78121309-78121712	SK-N-SH_RA	brain:	n/a	chr14:78121500-78121519
12	CTCF	chr14:78121357-78121687	GM19238	blood:	n/a	chr14:78121501-78121522 chr14:78121504-78121512 chr14:78121499-78121517
13	RAD21	chr14:78121072-78121987	HCT-116	colon:	n/a	chr14:78121500-78121519
14	SMC3	chr14:78121341-78121698	K562	blood:	n/a	n/a
15	MAZ	chr14:78121188-78121634	HepG2	liver:	n/a	n/a
16	RAD21	chr14:78121261-78121738	SK-N-SH_RA	brain:	n/a	chr14:78121500-78121519
17	CTCF	chr14:78121356-78121690	GM12892	blood:	n/a	chr14:78121501-78121522 chr14:78121504-78121512 chr14:78121499-78121517
18	CTCF	chr14:78121283-78121710	IMR90	lung:	n/a	chr14:78121501-78121522 chr14:78121504-78121512 chr14:78121499-78121517
19	SMC3	chr14:78120952-78121887	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr14:78121270-78121945	H1-hESC	embryonic stem cell:	n/a	n/a
21	MYC	chr14:78121348-78121548	MCF10A-Er-Src	breast:	n/a	n/a
22	RAD21	chr14:78120928-78122101	SK-N-SH	brain:	n/a	chr14:78121500-78121519
23	ZNF143	chr14:78121317-78121710	H1-hESC	embryonic stem cell:	n/a	n/a
24	RAD21	chr14:78121332-78121707	K562	blood:	n/a	chr14:78121500-78121519
25	REST	chr14:78121119-78122188	H1-neurons	neurons:	n/a	n/a
26	RAD21	chr14:78121337-78121682	A549	lung:	n/a	chr14:78121500-78121519
27	ZNF143	chr14:78121326-78121696	GM12878	blood:	n/a	n/a
28	RAD21	chr14:78121323-78121718	GM12878	blood:	n/a	chr14:78121500-78121519
29	BRCA1	chr14:78121264-78121535	HepG2	liver:	n/a	n/a
30	CTCF	chr14:78121291-78121683	A549	lung:	n/a	chr14:78121501-78121522 chr14:78121504-78121512 chr14:78121499-78121517
31	CTCF	chr14:78121261-78121709	H1-hESC	embryonic stem cell:	n/a	chr14:78121501-78121522 chr14:78121504-78121512 chr14:78121499-78121517
32	CTCF	chr14:78121159-78121851	MCF-7	breast:	n/a	chr14:78121501-78121522 chr14:78121504-78121512 chr14:78121499-78121517
33	RAD21	chr14:78121239-78121817	IMR90	lung:	n/a	chr14:78121500-78121519
34	CTCF	chr14:78121353-78121631	Spleen_OC	spleen:	n/a	chr14:78121501-78121522 chr14:78121504-78121512 chr14:78121499-78121517
35	RAD21	chr14:78121312-78121645	GM12878	blood:	n/a	chr14:78121500-78121519
36	RAD21	chr14:78121216-78121923	MCF-7	breast:	n/a	chr14:78121500-78121519
37	CTCF	chr14:78121317-78121747	A549	lung:	n/a	chr14:78121501-78121522 chr14:78121504-78121512 chr14:78121499-78121517
38	SMC3	chr14:78121248-78121743	Hela-S3	cervix:	n/a	n/a
39	RFX5	chr14:78121351-78121662	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr14:78121335-78121661	T-47D	breast:	n/a	chr14:78121501-78121522 chr14:78121504-78121512 chr14:78121499-78121517
41	CTCF	chr14:78121358-78121667	GM19240	blood:	n/a	chr14:78121501-78121522 chr14:78121504-78121512 chr14:78121499-78121517
42	RAD21	chr14:78121249-78121751	HepG2	liver:	n/a	chr14:78121500-78121519
43	SMC3	chr14:78121314-78121709	GM12878	blood:	n/a	n/a
44	CTCF	chr14:78121347-78121655	GM12878	blood:	n/a	chr14:78121501-78121522 chr14:78121504-78121512 chr14:78121499-78121517
45	CTCF	chr14:78121207-78121841	HCT-116	colon:	n/a	chr14:78121501-78121522 chr14:78121504-78121512 chr14:78121499-78121517
46	RAD21	chr14:78121315-78121717	ECC-1	luminal epithelium:	n/a	chr14:78121500-78121519
47	CTCF	chr14:78121325-78121592	HepG2	liver:	n/a	chr14:78121501-78121522 chr14:78121504-78121512 chr14:78121499-78121517
48	RAD21	chr14:78121326-78121831	ECC-1	luminal epithelium:	n/a	chr14:78121500-78121519
49	ZNF143	chr14:78121335-78121680	K562	blood:	n/a	n/a
50	CTCF	chr14:78121300-78121450	HAc	cerebellar:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:78083002..78083811-chr14:78120998..78121918,2	MCF-7	breast:
2	chr14:78121033..78121732-chr14:78283460..78284088,3	MCF-7	breast:
3	chr14:78116603..78122891-chr14:78172785..78176058,7	MCF-7	breast:
4	chr14:78121069..78121988-chr14:78173226..78174334,8	MCF-7	breast:

Variant related genes	Relation type
COX6CP11	TF binding region
ENSG00000119705	Chromatin interaction
ENSG00000100596	Chromatin interaction
ENSG00000100601	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10162372	0.96[ASN][1000 genomes]
rs10162541	0.88[ASN][1000 genomes]
rs12881619	0.99[ASN][1000 genomes]
rs176913	0.89[ASN][1000 genomes]
rs176917	0.96[ASN][1000 genomes]
rs2299926	0.82[CHD][hapmap]
rs2364581	0.80[AFR][1000 genomes]
rs2364582	0.82[CHB][hapmap];0.90[CHD][hapmap];0.89[LWK][hapmap];0.88[MKK][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs6574387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150435	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8014484	0.96[ASN][1000 genomes]
rs8019339	0.92[ASN][1000 genomes]

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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78119600-78122000	Enhancers	Pancreas	Pancrea
2	chr14:78119600-78123200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr14:78119800-78121400	Enhancers	Primary hematopoietic stem cells	blood
4	chr14:78119800-78121400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr14:78119800-78121400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:78119800-78121800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:78119800-78122000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:78119800-78122000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr14:78119800-78125400	Enhancers	Adipose Nuclei	Adipose
10	chr14:78120000-78121400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:78120000-78121800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr14:78120000-78121800	Enhancers	Primary B cells from cord blood	blood
13	chr14:78120000-78121800	Enhancers	Duodenum Mucosa	Duodenum
14	chr14:78120000-78122000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr14:78120000-78122000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:78120000-78122000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr14:78120000-78122000	Enhancers	Fetal Intestine Large	intestine
18	chr14:78120000-78122200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr14:78120200-78121400	Enhancers	Brain Hippocampus Middle	brain
20	chr14:78120200-78121800	Enhancers	Brain Anterior Caudate	brain
21	chr14:78120200-78121800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr14:78120200-78122000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr14:78120200-78122000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:78120200-78127600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr14:78120400-78121400	Enhancers	Fetal Brain Male	brain
26	chr14:78120400-78121600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:78120400-78121800	Enhancers	Gastric	stomach
28	chr14:78120400-78122000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:78120600-78121800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:78120600-78121800	Enhancers	Stomach Mucosa	stomach
31	chr14:78120600-78121800	Flanking Active TSS	HepG2	liver
32	chr14:78120600-78122000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr14:78120600-78123800	Enhancers	Spleen	Spleen
34	chr14:78120600-78126200	Weak transcription	Fetal Brain Female	brain
35	chr14:78120600-78126800	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr14:78120600-78138200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:78120800-78121800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:78120800-78121800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr14:78120800-78121800	Enhancers	K562	blood
40	chr14:78120800-78124600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr14:78121000-78121400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr14:78121000-78121400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr14:78121000-78121800	Enhancers	Brain Substantia Nigra	brain
44	chr14:78121000-78122000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr14:78121000-78122000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr14:78121000-78122200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr14:78121200-78121400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:78121200-78121400	Enhancers	Right Atrium	heart
49	chr14:78121200-78121800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:78121200-78121800	Enhancers	Brain Cingulate Gyrus	brain

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