Variant report

Variant	rs2075530
Chromosome Location	chr14:24733171-24733172
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	POLR2A	chr14:24733066-24734347	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr14:24731305-24734456	HepG2	liver:	n/a	n/a
3	ZNF217	chr14:24732884-24733379	MCF-7	breast:	n/a	n/a
4	TEAD4	chr14:24733019-24733506	MCF-7	breast:	n/a	n/a
5	NR2F2	chr14:24732510-24733495	MCF-7	breast:	n/a	n/a
6	HDAC2	chr14:24732565-24733557	MCF-7	breast:	n/a	chr14:24733395-24733409 chr14:24733391-24733405

No.	Distal block	Cell Line	Cell type
1	chr14:24732224..24734539-chr14:24898247..24900627,2	MCF-7	breast:
2	chr14:24703994..24706350-chr14:24732461..24734392,2	K562	blood:
3	chr14:24731299..24737661-chr14:24737668..24742603,15	K562	blood:
4	chr14:24656467..24658398-chr14:24732926..24735303,2	MCF-7	breast:

Variant related genes	Relation type
TGM1	TF binding region
ENSG00000196497	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000139899	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11622118	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs14193	0.83[JPT][hapmap]
rs2281473	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2295311	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2295315	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2877612	0.97[ASN][1000 genomes]
rs3814813	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825585	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3940231	0.83[JPT][hapmap]
rs6573651	0.97[ASN][1000 genomes]
rs6573653	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs729421	0.83[JPT][hapmap]
rs941505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24712600-24740000	Weak transcription	Small Intestine	intestine
2	chr14:24713000-24734200	Weak transcription	Left Ventricle	heart
3	chr14:24713000-24740000	Weak transcription	Right Atrium	heart
4	chr14:24713200-24734400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:24713200-24734600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:24713200-24734600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:24713200-24734600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:24713200-24734800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:24713200-24734800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr14:24713200-24735400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:24716400-24733800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr14:24716400-24734000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:24716400-24735800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr14:24716400-24739800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr14:24716600-24739800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:24717200-24736000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:24718600-24733400	Strong transcription	Primary T cells from cord blood	blood
18	chr14:24720000-24739600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:24720200-24733800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr14:24720800-24734200	Weak transcription	Brain Germinal Matrix	brain
21	chr14:24721200-24739400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr14:24721600-24735600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:24721600-24739800	Weak transcription	HUVEC	blood vessel
24	chr14:24722600-24740000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:24724200-24734800	Weak transcription	Aorta	Aorta
26	chr14:24724400-24734200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:24724400-24734800	Weak transcription	Thymus	Thymus
28	chr14:24724600-24734200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr14:24724600-24734800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:24724600-24734800	Weak transcription	Brain Angular Gyrus	brain
31	chr14:24724800-24734800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:24725000-24733200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr14:24725000-24733800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:24725000-24734200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr14:24725000-24734600	Weak transcription	Liver	Liver
36	chr14:24725000-24734800	Weak transcription	Colonic Mucosa	Colon
37	chr14:24725000-24735000	Weak transcription	Primary B cells from cord blood	blood
38	chr14:24725200-24734200	Weak transcription	Fetal Brain Female	brain
39	chr14:24725400-24733200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr14:24725600-24733200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr14:24725600-24734000	Weak transcription	Brain Hippocampus Middle	brain
42	chr14:24725600-24734000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:24725600-24734400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr14:24725800-24734000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr14:24725800-24737800	Weak transcription	Psoas Muscle	Psoas
46	chr14:24726200-24739800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:24726400-24734600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:24726800-24739800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr14:24727800-24739800	Weak transcription	K562	blood
50	chr14:24728200-24734200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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