Variant report

Variant	rs2295643
Chromosome Location	chr14:68087204-68087205
allele	A/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	POLR2A	chr14:68087120-68087477	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:68087061-68087525	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr14:68087120-68087270	SK-N-SH_RA	brain:	n/a	n/a
4	HA-E2F1	chr14:68086111-68087518	MCF-7	breast:	n/a	chr14:68086571-68086580 chr14:68086529-68086539 chr14:68086506-68086516 chr14:68086463-68086472 chr14:68086573-68086582 chr14:68086465-68086474 chr14:68086542-68086551 chr14:68086551-68086560
5	POLR2A	chr14:68086079-68087744	H1-neurons	neurons:	n/a	n/a
6	ZNF263	chr14:68086233-68087547	HEK293-T-REx	kidney:	n/a	chr14:68087234-68087255 chr14:68087289-68087298
7	REST	chr14:68086259-68087648	H1-neurons	neurons:	n/a	chr14:68086528-68086538 chr14:68086499-68086512
8	MYC	chr14:68086189-68087326	K562	blood:	n/a	chr14:68086577-68086586 chr14:68086502-68086512
9	E2F4	chr14:68087110-68087310	MCF10A-Er-Src	breast:	n/a	n/a
10	MAX	chr14:68087138-68087437	K562	blood:	n/a	n/a
11	SIN3A	chr14:68086136-68087538	H1-hESC	embryonic stem cell:	n/a	chr14:68087293-68087301
12	SPI1	chr14:68087018-68087212	K562	blood:	n/a	n/a
13	RCOR1	chr14:68087144-68087540	K562	blood:	n/a	n/a
14	POLR2A	chr14:68086098-68087778	H1-neurons	neurons:	n/a	n/a
15	ZNF143	chr14:68087083-68087283	H1-hESC	embryonic stem cell:	n/a	n/a
16	TBP	chr14:68086150-68087525	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr14:68085519-68088093	MCF10A-Er-Src	breast:	n/a	n/a
18	TAF1	chr14:68086319-68087970	H1-neurons	neurons:	n/a	n/a
19	YY1	chr14:68086220-68087293	H1-hESC	embryonic stem cell:	n/a	chr14:68086499-68086513 chr14:68086618-68086632 chr14:68086548-68086562 chr14:68086551-68086560
20	MAZ	chr14:68087099-68087492	K562	blood:	n/a	n/a
21	TAF1	chr14:68087078-68087516	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr14:68087200-68087537	MCF10A-Er-Src	breast:	n/a	n/a
23	MXI1	chr14:68085190-68087653	SK-N-SH	brain:	n/a	chr14:68085596-68085611 chr14:68085594-68085609
24	POLR2A	chr14:68085868-68088060	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAZ	chr14:68085371-68087514	IMR90	lung:	n/a	chr14:68086577-68086586 chr14:68085596-68085605 chr14:68086502-68086512 chr14:68085600-68085609
26	MAX	chr14:68086124-68087471	H1-hESC	embryonic stem cell:	n/a	chr14:68086577-68086586 chr14:68086502-68086512
27	TAF1	chr14:68086031-68087605	H1-hESC	embryonic stem cell:	n/a	n/a
28	YY1	chr14:68086274-68087407	H1-hESC	embryonic stem cell:	n/a	chr14:68086499-68086513 chr14:68086618-68086632 chr14:68086548-68086562 chr14:68086551-68086560
29	REST	chr14:68085375-68088227	H1-neurons	neurons:	n/a	chr14:68086528-68086538 chr14:68086499-68086512

No.	Distal block	Cell Line	Cell type
1	chr14:68085513..68087982-chr14:68140363..68143281,3	MCF-7	breast:
2	chr14:68083940..68087212-chr14:68160289..68163699,4	K562	blood:
3	chr14:68081591..68084164-chr14:68086995..68089181,2	K562	blood:
4	chr14:68083940..68088003-chr14:68160289..68162917,5	K562	blood:
5	chr14:68065533..68067898-chr14:68086654..68089518,2	K562	blood:
6	chr14:68086481..68089265-chr14:68117411..68120883,3	K562	blood:
7	chr14:68085007..68087641-chr14:68161734..68163830,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201529	TF binding region
ENSG00000072042	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000258626	Chromatin interaction
ENSG00000259648	Chromatin interaction
ENSG00000201529	Chromatin interaction
ENSG00000100564	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1117516	0.88[JPT][hapmap]
rs11629160	0.89[JPT][hapmap]
rs11849521	0.89[JPT][hapmap]
rs17782603	0.88[JPT][hapmap]
rs2057119	0.89[JPT][hapmap]
rs3759763	0.88[JPT][hapmap]
rs61990121	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7156352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs742869	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68085600-68087400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr14:68085600-68087600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr14:68085800-68087400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr14:68085800-68087400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr14:68085800-68087400	Active TSS	NH-A	brain
6	chr14:68085800-68087800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:68086000-68087400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr14:68086000-68087400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:68086000-68087400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:68086000-68087400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr14:68086000-68087400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr14:68086000-68087400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr14:68086000-68087400	Active TSS	Brain Substantia Nigra	brain
14	chr14:68086000-68087400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
15	chr14:68086000-68087400	Flanking Active TSS	Placenta	Placenta
16	chr14:68086000-68087400	Active TSS	Left Ventricle	heart
17	chr14:68086000-68087400	Active TSS	Ovary	ovary
18	chr14:68086000-68087400	Active TSS	Right Atrium	heart
19	chr14:68086000-68087600	Active TSS	H9 Cell Line	embryonic stem cell
20	chr14:68086000-68087600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:68086000-68087600	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr14:68086000-68087600	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr14:68086000-68087600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr14:68086000-68087800	Active TSS	Brain Hippocampus Middle	brain
25	chr14:68086000-68088000	Active TSS	Psoas Muscle	Psoas
26	chr14:68086000-68088000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr14:68086200-68087400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:68086200-68087400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:68086200-68087400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:68086200-68087400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:68086200-68087400	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr14:68086200-68087400	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr14:68086200-68087400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr14:68086200-68087400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:68086200-68087400	Active TSS	Fetal Heart	heart
36	chr14:68086200-68087400	Active TSS	Lung	lung
37	chr14:68086200-68087400	Active TSS	NHDF-Ad	bronchial
38	chr14:68086200-68087600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:68086200-68087600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:68086200-68087600	Active TSS	Fetal Kidney	kidney
41	chr14:68086200-68087600	Flanking Active TSS	Dnd41	blood
42	chr14:68086400-68087400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:68086400-68087400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:68086400-68087400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:68086400-68087400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:68086400-68087400	Active TSS	Fetal Brain Male	brain
47	chr14:68086400-68087400	Active TSS	Rectal Smooth Muscle	rectum
48	chr14:68086400-68087400	Active TSS	HSMM	muscle
49	chr14:68086400-68087600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:68086400-68087600	Active TSS	Muscle Satellite Cultured Cells	--

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