Variant report

Variant	rs10130940
Chromosome Location	chr14:69403030-69403031
allele	A/C
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	chr14:69402770-69403264	HUVEC	blood vessel:	n/a	n/a
2	RFX5	chr14:69402301-69403391	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr14:69402940-69403137	HepG2	liver:	n/a	n/a
4	RFX5	chr14:69402688-69403035	H1-hESC	embryonic stem cell:	n/a	n/a
5	RFX5	chr14:69402723-69403058	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr14:69402333-69403236	HUVEC	blood vessel:	n/a	n/a
7	RFX5	chr14:69402771-69403032	HepG2	liver:	n/a	n/a
8	NFYB	chr14:69402726-69403033	K562	blood:	n/a	chr14:69402902-69402916 chr14:69402904-69402914 chr14:69402901-69402916 chr14:69402901-69402916

No.	Distal block	Cell Line	Cell type
1	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:
2	chr14:69398400..69399960-chr14:69400937..69403157,2	MCF-7	breast:
3	chr14:69402918..69410408-chr14:69410942..69415819,17	MCF-7	breast:

Variant related genes	Relation type
BANF1P1	TF binding region
ENSG00000072110	Chromatin interaction
ENSG00000259062	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10136833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136928	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147437	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10149281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220357	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220358	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220562	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220679	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12101054	0.85[JPT][hapmap]
rs12434957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs194718	0.85[JPT][hapmap]
rs2093010	0.85[JPT][hapmap]
rs2273419	0.85[JPT][hapmap]
rs73288945	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74059828	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs743127	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv564964	chr14:69392264-69423164	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv456333	chr14:69392445-69415962	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv564965	chr14:69392445-69415962	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69337400-69404400	Weak transcription	Fetal Brain Male	brain
2	chr14:69372400-69404400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:69387400-69420400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:69387800-69405600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:69389600-69404400	Weak transcription	Psoas Muscle	Psoas
6	chr14:69390000-69404400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:69391800-69403600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr14:69392400-69404400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:69392400-69404400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr14:69392800-69406200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:69393400-69404200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr14:69393400-69404400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:69393600-69406400	Weak transcription	Hela-S3	cervix
14	chr14:69393800-69404400	Weak transcription	Thymus	Thymus
15	chr14:69393800-69405000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:69393800-69405800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:69394000-69404400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:69394200-69422200	Weak transcription	Dnd41	blood
19	chr14:69395200-69403800	Weak transcription	Fetal Intestine Large	intestine
20	chr14:69395400-69405000	Weak transcription	Fetal Kidney	kidney
21	chr14:69395600-69404600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr14:69396200-69403400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:69396200-69408800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr14:69396400-69409000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:69396600-69403400	Weak transcription	Colonic Mucosa	Colon
26	chr14:69397600-69406400	Genic enhancers	HMEC	breast
27	chr14:69397800-69404800	Genic enhancers	HSMM	muscle
28	chr14:69397800-69415200	Enhancers	Esophagus	oesophagus
29	chr14:69398400-69403400	Weak transcription	Brain Angular Gyrus	brain
30	chr14:69398400-69404600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:69398400-69405200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:69398600-69404400	Weak transcription	Primary B cells from cord blood	blood
33	chr14:69398800-69404600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:69399000-69423200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr14:69399400-69405600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:69399400-69407600	Genic enhancers	NHEK	skin
37	chr14:69399800-69404200	Weak transcription	NHDF-Ad	bronchial
38	chr14:69399800-69404800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:69400000-69408400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:69400200-69416400	Enhancers	Pancreas	Pancrea
41	chr14:69400400-69417000	Enhancers	Fetal Muscle Leg	muscle
42	chr14:69400800-69404200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr14:69400800-69420400	Enhancers	Fetal Lung	lung
44	chr14:69401000-69407200	Enhancers	Brain Anterior Caudate	brain
45	chr14:69401200-69403200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:69401200-69403600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr14:69401200-69406000	Genic enhancers	Osteobl	bone
48	chr14:69401200-69408400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr14:69401400-69403800	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr14:69401400-69404200	Weak transcription	Fetal Thymus	thymus

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