Variant report

Variant	rs10148970
Chromosome Location	chr14:103892000-103892001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:103865764..103868576-chr14:103891943..103893901,2	K562	blood:
2	chr14:103885868..103889537-chr14:103891147..103894147,4	K562	blood:
3	chr14:103866682..103869641-chr14:103890743..103893905,3	MCF-7	breast:

Extended variants
information (count: 95 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10141120	0.86[YRI][hapmap]
rs10141388	0.90[YRI][hapmap]
rs10144051	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151483	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10162425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1107070	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.82[EUR][1000 genomes]
rs11160751	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1116095	1.00[CEU][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1138400	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11620897	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11627446	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12431617	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12432803	1.00[CEU][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12435516	1.00[CEU][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12436729	1.00[CEU][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12436759	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12436956	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12588272	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12878548	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12894652	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17841064	1.00[CEU][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2023395	0.82[EUR][1000 genomes]
rs2071407	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2071408	0.82[ASN][1000 genomes]
rs2273699	0.86[YRI][hapmap]
rs2273701	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2273702	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2403174	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2403192	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2756128	0.82[EUR][1000 genomes]
rs2756132	1.00[CEU][hapmap];0.82[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.82[EUR][1000 genomes]
rs2756135	1.00[CEU][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2765046	0.82[EUR][1000 genomes]
rs2765049	0.82[EUR][1000 genomes]
rs2765051	0.84[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs34251103	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34411783	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34831235	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35233301	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35410438	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35512556	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3759577	0.80[CHD][hapmap];0.81[TSI][hapmap]
rs3783399	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3783402	0.82[YRI][hapmap]
rs4143998	0.88[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4243738	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4243739	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4906319	0.94[CEU][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap]
rs4906320	0.94[CEU][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4906322	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4906324	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4906329	1.00[CEU][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55658071	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55742283	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57344120	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60235428	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6575982	0.94[CEU][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6575985	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6575986	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6575988	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6575991	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7140647	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7144010	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7144271	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145753	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7146215	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7146506	0.89[YRI][hapmap]
rs7147664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7148567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148614	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7149767	0.94[CEU][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7152202	0.86[YRI][hapmap]
rs7156036	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7156471	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7158822	0.84[YRI][hapmap]
rs7159668	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8003740	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8010247	1.00[CEU][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8014013	1.00[CEU][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8014800	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8015429	0.88[EUR][1000 genomes]
rs8015918	0.86[YRI][hapmap]
rs8016676	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8018400	1.00[CEU][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8020912	0.80[GIH][hapmap];0.83[TSI][hapmap]
rs911552	0.91[JPT][hapmap]
rs911554	0.91[JPT][hapmap]
rs911555	0.91[JPT][hapmap]
rs9671414	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9671911	0.89[YRI][hapmap]
rs975892	1.00[CEU][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

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	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10148970	BAG5	Cis_1M	lymphoblastoid	RTeQTL
rs10148970	KLC1	cis	parietal	SCAN
rs10148970	NCRNA00221	cis	cerebellum	SCAN

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
2	chr14:103874600-103900800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:103875200-103893600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:103875400-103892200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr14:103875400-103893600	Weak transcription	Brain Germinal Matrix	brain
6	chr14:103875600-103893800	Weak transcription	Fetal Heart	heart
7	chr14:103875600-103894000	Weak transcription	Fetal Brain Male	brain
8	chr14:103879000-103892800	Weak transcription	Spleen	Spleen
9	chr14:103879000-103895200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr14:103879000-103914200	Weak transcription	Esophagus	oesophagus
11	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:103880400-103894200	Weak transcription	Liver	Liver
13	chr14:103880400-103904600	Weak transcription	Fetal Kidney	kidney
14	chr14:103881000-103900600	Weak transcription	Placenta	Placenta
15	chr14:103883000-103894400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:103883200-103892800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:103883200-103893800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:103883400-103892800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr14:103883400-103893600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr14:103883400-103900000	Weak transcription	Fetal Thymus	thymus
21	chr14:103883600-103892600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr14:103883600-103892800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr14:103883600-103894000	Weak transcription	Fetal Brain Female	brain
24	chr14:103883600-103894000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr14:103883800-103892200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr14:103883800-103894000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:103883800-103896800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr14:103884000-103895400	Weak transcription	Stomach Mucosa	stomach
29	chr14:103884200-103892200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr14:103884200-103893600	Weak transcription	HUVEC	blood vessel
31	chr14:103884200-103897200	Weak transcription	Fetal Intestine Small	intestine
32	chr14:103884800-103892000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr14:103885000-103893600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:103885000-103893800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr14:103885000-103893800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr14:103885000-103894000	Weak transcription	Small Intestine	intestine
37	chr14:103885200-103892200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr14:103885200-103892400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr14:103885200-103894000	Weak transcription	HMEC	breast
40	chr14:103885400-103893800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:103886800-103893600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr14:103887200-103892600	Strong transcription	Primary T cells from cord blood	blood
43	chr14:103887400-103892200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:103887800-103893600	Weak transcription	Brain Substantia Nigra	brain
45	chr14:103888000-103892000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr14:103888000-103892800	Weak transcription	Right Atrium	heart
47	chr14:103888000-103893800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr14:103888000-103894000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr14:103888200-103892000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr14:103888200-103892000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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