Variant report

Variant	rs2371413
Chromosome Location	chr14:81231496-81231497
allele	C/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	ZNF217	chr14:81231321-81231518	MCF-7	breast:	n/a	n/a
2	GATA3	chr14:81231178-81231681	MCF-7	breast:	n/a	n/a
3	MAFK	chr14:81231483-81231835	IMR90	lung:	n/a	chr14:81231641-81231652 chr14:81231640-81231651 chr14:81231640-81231656 chr14:81231640-81231655 chr14:81231639-81231653 chr14:81231644-81231658 chr14:81231641-81231661 chr14:81231643-81231659 chr14:81231640-81231651
4	HDAC2	chr14:81231315-81231634	MCF-7	breast:	n/a	n/a
5	FOXA1	chr14:81231240-81231650	T-47D	breast:	n/a	n/a
6	KAP1	chr14:81231190-81231846	HEK293	kidney:	n/a	n/a
7	SIN3AK20	chr14:81231309-81231612	PFSK-1	brain:	n/a	n/a
8	GATA3	chr14:81231149-81231632	T-47D	breast:	n/a	n/a
9	GATA3	chr14:81231306-81231922	SH-SY5Y	brain:	n/a	n/a
10	GATA3	chr14:81231265-81231602	MCF-7	breast:	n/a	n/a
11	GATA3	chr14:81231143-81231698	MCF-7	breast:	n/a	n/a
12	TAF1	chr14:81231494-81231757	PFSK-1	brain:	n/a	n/a
13	EP300	chr14:81231170-81231735	MCF-7	breast:	n/a	n/a
14	SIN3AK20	chr14:81231147-81231822	MCF-7	breast:	n/a	n/a
15	FOXA1	chr14:81231274-81231697	T-47D	breast:	n/a	n/a
16	SIN3AK20	chr14:81231073-81231739	MCF-7	breast:	n/a	n/a
17	JUND	chr14:81231167-81231769	T-47D	breast:	n/a	n/a
18	SIN3AK20	chr14:81231299-81231544	PFSK-1	brain:	n/a	n/a
19	MAFF	chr14:81231478-81231806	HepG2	liver:	n/a	chr14:81231638-81231656 chr14:81231644-81231658
20	GATA2	chr14:81231327-81231617	SH-SY5Y	brain:	n/a	n/a
21	MAFK	chr14:81231474-81231819	HepG2	liver:	n/a	chr14:81231641-81231652 chr14:81231640-81231651 chr14:81231640-81231656 chr14:81231640-81231655 chr14:81231639-81231653 chr14:81231644-81231658 chr14:81231641-81231661 chr14:81231643-81231659 chr14:81231640-81231651
22	MAFK	chr14:81231475-81231790	HepG2	liver:	n/a	chr14:81231641-81231652 chr14:81231640-81231651 chr14:81231640-81231656 chr14:81231640-81231655 chr14:81231639-81231653 chr14:81231644-81231658 chr14:81231641-81231661 chr14:81231643-81231659 chr14:81231640-81231651
23	GATA3	chr14:81231007-81231643	MCF-7	breast:	n/a	n/a
24	TCF7L2	chr14:81231278-81232102	HEK293	kidney:	n/a	n/a
25	GATA3	chr14:81231193-81231686	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81226988..81229191-chr14:81230301..81232376,2	MCF-7	breast:
2	chr14:81230364..81233121-chr14:81236333..81239147,3	MCF-7	breast:

Variant related genes	Relation type
CEP128	TF binding region
ENSG00000100629	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1016507	0.87[CHB][hapmap];1.00[YRI][hapmap]
rs12431821	0.86[CHB][hapmap];0.87[YRI][hapmap]
rs12880014	0.96[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12888082	0.87[CHB][hapmap];1.00[YRI][hapmap]
rs12891585	0.91[CHB][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12896065	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1458993	0.87[CHB][hapmap]
rs1597320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17542615	0.86[CHB][hapmap]
rs17542712	0.80[JPT][hapmap]
rs17613911	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17614081	0.87[CHB][hapmap];0.83[EUR][1000 genomes]
rs1992973	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2246617	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs228120	1.00[YRI][hapmap]
rs2371416	0.80[CHB][hapmap]
rs2371457	1.00[YRI][hapmap]
rs2590480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2596118	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34848301	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4523859	0.87[CHB][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4903948	1.00[YRI][hapmap]
rs6574605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7141434	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7145233	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7148618	0.87[CHB][hapmap];1.00[YRI][hapmap]
rs7154132	1.00[YRI][hapmap]
rs759916	1.00[YRI][hapmap]
rs8005809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8006864	1.00[YRI][hapmap]
rs8016601	1.00[YRI][hapmap]
rs8017943	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8021137	1.00[YRI][hapmap]
rs8022411	1.00[YRI][hapmap]
rs8023233	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1035295	chr14:81180999-81236636	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81192800-81305400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:81199800-81248600	Weak transcription	Primary T cells from cord blood	blood
3	chr14:81205000-81261000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:81207200-81232600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:81207600-81265400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:81208400-81240400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:81208800-81232400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:81209600-81248200	Weak transcription	HSMM	muscle
9	chr14:81215800-81236200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr14:81221000-81238600	Weak transcription	Ovary	ovary
11	chr14:81221400-81238600	Weak transcription	Thymus	Thymus
12	chr14:81221600-81236200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:81222400-81260000	Weak transcription	Fetal Brain Female	brain
14	chr14:81223200-81250800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr14:81223400-81234000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:81227000-81260800	Weak transcription	NH-A	brain
17	chr14:81227400-81258000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr14:81227600-81236200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:81228200-81240800	Weak transcription	Fetal Thymus	thymus
20	chr14:81229400-81238800	Weak transcription	Left Ventricle	heart
21	chr14:81229600-81234200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:81229800-81236200	Weak transcription	NHDF-Ad	bronchial
23	chr14:81230800-81232000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:81231000-81231600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:81231200-81232600	Strong transcription	Dnd41	blood
26	chr14:81231200-81251400	Weak transcription	A549	lung
27	chr14:81231400-81232400	Weak transcription	NHEK	skin

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