Variant report

Variant	rs7145210
Chromosome Location	chr14:78120184-78120185
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	chr14:78120120-78120270	A549	lung:	n/a	n/a
2	RAD21	chr14:78119803-78120307	H1-hESC	embryonic stem cell:	n/a	chr14:78119997-78120011 chr14:78120045-78120057
3	RAD21	chr14:78119759-78120252	MCF-7	breast:	n/a	chr14:78119997-78120011 chr14:78120045-78120057
4	CTCF	chr14:78119778-78120204	H1-hESC	embryonic stem cell:	n/a	chr14:78119998-78120011
5	ZNF263	chr14:78119849-78120626	HEK293-T-REx	kidney:	n/a	n/a
6	CTCF	chr14:78119704-78120226	K562	blood:	n/a	chr14:78119998-78120011
7	ZNF143	chr14:78119845-78120213	H1-hESC	embryonic stem cell:	n/a	chr14:78120028-78120046
8	JUND	chr14:78119928-78120202	HepG2	liver:	n/a	n/a
9	CTCF	chr14:78120080-78120230	HFF-Myc	foreskin:	n/a	n/a
10	RAD21	chr14:78119864-78120217	HepG2	liver:	n/a	chr14:78119997-78120011 chr14:78120045-78120057
11	REST	chr14:78120095-78121098	H1-neurons	neurons:	n/a	n/a

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
ENSG00000100601	Chromatin interaction
ENSG00000119705	Chromatin interaction
ENSG00000100596	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

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]
rs2364582	0.82[CHB][hapmap]
rs6574387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[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[JPT][hapmap];1.00[ASN][1000 genomes]
rs7401326	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]
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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78115600-78120800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr14:78118400-78120200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:78119600-78120200	Enhancers	K562	blood
4	chr14:78119600-78122000	Enhancers	Pancreas	Pancrea
5	chr14:78119600-78123200	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr14:78119800-78120200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr14:78119800-78120200	Flanking Active TSS	HepG2	liver
8	chr14:78119800-78120800	Enhancers	Placenta	Placenta
9	chr14:78119800-78121200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:78119800-78121400	Enhancers	Primary hematopoietic stem cells	blood
11	chr14:78119800-78121400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr14:78119800-78121400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:78119800-78121800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:78119800-78122000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:78119800-78122000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr14:78119800-78125400	Enhancers	Adipose Nuclei	Adipose
17	chr14:78120000-78120200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:78120000-78120200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:78120000-78120200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:78120000-78120200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr14:78120000-78120400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr14:78120000-78120400	Enhancers	Primary T cells from cord blood	blood
23	chr14:78120000-78120400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:78120000-78120800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr14:78120000-78121400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:78120000-78121800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr14:78120000-78121800	Enhancers	Primary B cells from cord blood	blood
28	chr14:78120000-78121800	Enhancers	Duodenum Mucosa	Duodenum
29	chr14:78120000-78122000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr14:78120000-78122000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:78120000-78122000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr14:78120000-78122000	Enhancers	Fetal Intestine Large	intestine
33	chr14:78120000-78122200	Enhancers	Cortex derived primary cultured neurospheres	brain

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