Variant report

Variant	rs2273702
Chromosome Location	chr14:103918182-103918183
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:103914502..103918340-chr14:103920632..103922963,4	MCF-7	breast:
2	chr14:103909074..103912796-chr14:103914984..103919219,5	MCF-7	breast:
3	chr14:103913931..103915971-chr14:103917961..103920745,2	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10141120	0.90[YRI][hapmap]
rs10141388	0.86[YRI][hapmap]
rs10144051	0.94[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10148970	0.88[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10151483	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10162425	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1107070	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11160751	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1116095	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1138400	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11620897	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11627446	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11848796	0.85[ASN][1000 genomes]
rs12431617	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12432803	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12435516	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12436729	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12436759	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12436956	0.85[EUR][1000 genomes]
rs12588272	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12878548	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12882393	0.80[ASN][1000 genomes]
rs12894652	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17101620	0.82[ASN][1000 genomes]
rs17841064	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2023395	0.87[EUR][1000 genomes]
rs2071407	0.84[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2071408	0.87[ASN][1000 genomes]
rs2273699	0.90[YRI][hapmap]
rs2273701	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2273703	0.80[AFR][1000 genomes]
rs2403174	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2403192	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2756122	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2756128	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2756132	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2756135	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2765046	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2765049	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2765051	0.84[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34251103	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34411783	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34831235	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35233301	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35374941	0.82[ASN][1000 genomes]
rs35410438	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35512556	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3759577	0.82[CHB][hapmap];0.84[CHD][hapmap];0.81[TSI][hapmap]
rs3783399	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3783402	0.86[YRI][hapmap]
rs4143998	0.88[ASW][hapmap];0.94[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4243738	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4243739	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4900580	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4906319	0.94[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap]
rs4906320	0.94[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4906322	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4906324	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4906329	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55658071	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55742283	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57344120	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60235428	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6575982	0.94[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6575985	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6575986	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6575988	0.94[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6575991	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7140647	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7144010	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7144271	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7145753	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7146215	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7146506	0.93[YRI][hapmap]
rs7147664	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7148567	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7148614	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7149767	0.94[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7152202	0.90[YRI][hapmap]
rs7156036	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7156471	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7158822	0.88[YRI][hapmap]
rs7159668	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8003740	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8010247	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8014013	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8014800	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8015429	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8015918	0.90[YRI][hapmap]
rs8016676	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8018400	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[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];0.83[CHB][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9671911	0.86[YRI][hapmap]
rs975892	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2273702	MARK3	cis	multi-tissue	Pritchard
rs2273702	C14orf172	cis	multi-tissue	Pritchard
rs2273702	NCRNA00221	cis	cerebellum	SCAN
rs2273702	KLC1	cis	parietal	SCAN

Chromatin state (count:124 , 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	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:103890000-103922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:103894600-103922400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr14:103894600-103927400	Weak transcription	Hela-S3	cervix
6	chr14:103896000-103922400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr14:103896000-103922600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:103899200-103934400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:103900800-103918600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:103901200-103918400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr14:103901600-103920000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:103901600-103928600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr14:103904200-103918200	Weak transcription	Fetal Intestine Large	intestine
14	chr14:103904200-103920000	Weak transcription	HUVEC	blood vessel
15	chr14:103905400-103920000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr14:103905800-103918400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:103906600-103920800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr14:103907000-103918400	Weak transcription	Primary T cells from cord blood	blood
19	chr14:103908000-103919000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:103908400-103919800	Weak transcription	NHEK	skin
21	chr14:103908600-103920000	Weak transcription	Fetal Intestine Small	intestine
22	chr14:103910200-103923400	Weak transcription	GM12878-XiMat	blood
23	chr14:103910800-103922400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:103912000-103921600	Weak transcription	NHLF	lung
25	chr14:103912200-103921800	Weak transcription	HSMMtube	muscle
26	chr14:103912200-103927200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr14:103912200-103928400	Weak transcription	Colon Smooth Muscle	Colon
28	chr14:103912200-103930000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr14:103912200-103942200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr14:103912400-103918200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr14:103912400-103918400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr14:103912400-103924000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:103912400-103928600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr14:103912400-103931800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr14:103912600-103918200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:103912600-103928400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr14:103912600-103929600	Weak transcription	Brain Substantia Nigra	brain
38	chr14:103912600-103932000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:103913000-103926600	Weak transcription	Fetal Brain Male	brain
40	chr14:103913000-103929000	Weak transcription	Brain Germinal Matrix	brain
41	chr14:103913200-103929000	Weak transcription	Brain Angular Gyrus	brain
42	chr14:103913200-103929000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:103913400-103918200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr14:103913400-103919400	Weak transcription	HepG2	liver
45	chr14:103913600-103919400	Weak transcription	Fetal Brain Female	brain
46	chr14:103913600-103926800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr14:103913800-103920000	Weak transcription	Ovary	ovary
48	chr14:103913800-103922400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr14:103914000-103918200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr14:103914200-103928600	Weak transcription	Brain Hippocampus Middle	brain

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