Variant report

Variant	rs7142806
Chromosome Location	chr14:96993261-96993262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:96965294..96968379-chr14:96992362..96994561,3	MCF-7	breast:
2	chr14:96992168..96995386-chr14:96999762..97002036,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090060	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10136266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10136277	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10139164	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10140247	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10143834	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10144704	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10145194	0.83[JPT][hapmap]
rs10467873	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11160341	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11160344	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11621566	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.84[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11621778	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11623142	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11625090	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11627288	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11848720	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11848778	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12147439	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12147717	0.83[JPT][hapmap]
rs12586789	0.83[JPT][hapmap]
rs13329034	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13379390	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1484251	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17094149	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2274795	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28600893	0.83[JPT][hapmap];0.85[TSI][hapmap]
rs28718054	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28738720	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2887550	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3809425	0.83[JPT][hapmap]
rs4514608	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56184178	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56960368	0.86[ASN][1000 genomes]
rs58112821	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60920648	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61435932	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61570427	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66881740	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7142226	0.83[JPT][hapmap]
rs7146883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160148	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.84[MEX][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8013517	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs965950	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042409	chr14:96832303-97115668	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv542178	chr14:96832303-97115668	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv3442210	chr14:96878392-97038700	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	esv1802671	chr14:96942352-97035680	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1052499	chr14:96974524-97034805	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	esv1793036	chr14:96983291-97023059	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:96978000-97019400	Weak transcription	Aorta	Aorta
2	chr14:96979600-97000200	Weak transcription	Fetal Heart	heart
3	chr14:96979600-97022400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:96979800-97019200	Weak transcription	Small Intestine	intestine
5	chr14:96980800-97020600	Weak transcription	Stomach Mucosa	stomach
6	chr14:96981200-96998400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:96982000-97031400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:96984400-96994200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:96984600-97000200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:96984800-97020800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:96984800-97039400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:96985800-97004800	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:96985800-97005200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:96986000-97003800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr14:96986000-97004800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:96986200-96999000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:96986200-97004400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:96986200-97005600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:96986400-96993400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:96986400-96995200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr14:96986400-97002800	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:96986400-97002800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:96986400-97002800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:96986400-97003000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr14:96986400-97005400	Strong transcription	Placenta	Placenta
26	chr14:96986400-97007200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:96986600-96995200	Strong transcription	Fetal Thymus	thymus
28	chr14:96986600-97001200	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr14:96986600-97003800	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr14:96986600-97005200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:96986600-97006200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:96986800-96993600	Strong transcription	Fetal Muscle Leg	muscle
33	chr14:96986800-96994000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:96986800-96995000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:96986800-97003800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:96986800-97006800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr14:96987000-96995200	Strong transcription	HepG2	liver
38	chr14:96987000-97002400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:96987000-97002600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr14:96987000-97003000	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr14:96987200-96994800	Strong transcription	Liver	Liver
42	chr14:96987200-96995000	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr14:96987200-96995400	Strong transcription	GM12878-XiMat	blood
44	chr14:96987200-96996400	Strong transcription	A549	lung
45	chr14:96987200-97002800	Strong transcription	Primary B cells from cord blood	blood
46	chr14:96987200-97003800	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr14:96987200-97004000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:96987200-97004400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr14:96987200-97004400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:96987200-97010200	Weak transcription	HSMMtube	muscle

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