Variant report

Variant	rs9671414
Chromosome Location	chr14:103967299-103967300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103957288..103960022-chr14:103965269..103968213,3	MCF-7	breast:
2	chr14:103966984..103970771-chr14:103985021..103987400,4	K562	blood:
3	chr14:103966852..103969165-chr14:104004136..104006723,2	MCF-7	breast:
4	chr14:103966734..103968731-chr14:104012541..104016540,3	MCF-7	breast:
5	chr14:103966787..103968360-chr14:104027177..104028739,2	MCF-7	breast:
6	chr14:103799655..103801928-chr14:103966389..103970885,4	MCF-7	breast:
7	chr14:103967247..103969712-chr14:104012689..104014722,2	MCF-7	breast:
8	chr14:103965301..103968285-chr14:103970025..103972869,2	MCF-7	breast:
9	chr14:103966781..103968440-chr14:103982656..103984906,2	MCF-7	breast:
10	chr14:103962191..103965143-chr14:103967090..103971008,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166170	Chromatin interaction
ENSG00000166165	Chromatin interaction
ENSG00000100664	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000075413	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10141120	0.90[YRI][hapmap]
rs10141388	0.86[YRI][hapmap]
rs10144051	0.94[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];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10148970	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]
rs10151483	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10162425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1107070	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11160751	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1116095	1.00[CEU][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1138400	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11620897	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11627446	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11848796	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12431617	0.81[EUR][1000 genomes]
rs12432803	1.00[CEU][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12435516	1.00[CEU][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12436729	1.00[CEU][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12436956	0.80[EUR][1000 genomes]
rs12588272	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12878548	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12894652	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17841064	1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs2023395	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2071407	0.82[ASW][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2071408	0.95[ASN][1000 genomes]
rs2273699	0.90[YRI][hapmap]
rs2273701	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2273702	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2403174	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2403192	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2756118	0.87[ASN][1000 genomes]
rs2756122	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2756128	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2756132	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2756135	1.00[CEU][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2765042	0.87[ASN][1000 genomes]
rs2765046	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2765049	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2765051	0.84[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34411783	0.85[EUR][1000 genomes]
rs34831235	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35233301	0.82[EUR][1000 genomes]
rs35374941	0.89[ASN][1000 genomes]
rs35410438	0.82[EUR][1000 genomes]
rs35512556	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3759577	0.83[TSI][hapmap]
rs3783399	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783402	0.86[YRI][hapmap]
rs4143998	1.00[ASW][hapmap];0.94[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];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4243738	0.81[ASN][1000 genomes]
rs4243739	0.81[ASN][1000 genomes]
rs4900580	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4906319	0.94[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4906320	0.94[CEU][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs4906322	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4906324	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4906329	1.00[CEU][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55658071	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55742283	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57344120	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60235428	0.83[EUR][1000 genomes]
rs6575982	0.94[CEU][hapmap];0.86[JPT][hapmap]
rs6575985	0.83[EUR][1000 genomes]
rs6575986	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6575988	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6575991	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7140647	0.83[EUR][1000 genomes]
rs7144271	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7145753	0.81[ASN][1000 genomes]
rs7146215	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7146506	0.93[YRI][hapmap]
rs7147664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7148567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7148614	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7149767	0.94[CEU][hapmap];0.86[JPT][hapmap]
rs7152202	0.90[YRI][hapmap]
rs7156036	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7156471	0.81[EUR][1000 genomes]
rs7158822	0.88[YRI][hapmap]
rs7159668	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs754287	0.85[ASN][1000 genomes]
rs8003740	0.83[EUR][1000 genomes]
rs8010247	1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8014013	1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8014800	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8015429	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8015918	0.90[YRI][hapmap]
rs8016676	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8018400	1.00[CEU][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes]
rs8020912	0.82[GIH][hapmap];0.86[TSI][hapmap]
rs911552	0.91[JPT][hapmap]
rs911554	0.91[JPT][hapmap]
rs911555	0.91[JPT][hapmap]
rs9671911	0.86[YRI][hapmap]
rs975892	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	esv1835815	chr14:103942991-103989757	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
5	nsv1044967	chr14:103954727-104007051	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	esv1807091	chr14:103956182-104020454	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv1835824	chr14:103956182-104020454	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	esv1818859	chr14:103967299-103989757	Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active 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	28 gene(s)	inside rSNPs	diseases
11	esv1833254	chr14:103967299-103989757	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
12	esv1835374	chr14:103967299-103989757	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs9671414	C14orf172	cis	multi-tissue	Pritchard
rs9671414	BAG5	Cis_1M	lymphoblastoid	RTeQTL
rs9671414	KLC1	cis	parietal	SCAN
rs9671414	NCRNA00221	cis	cerebellum	SCAN
rs9671414	MARK3	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103923200-103976800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:103927800-103979800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:103943200-103969200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:103947600-103967400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:103947600-103972800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr14:103947600-103980000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr14:103950400-103978800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:103950600-103979000	Strong transcription	Fetal Intestine Small	intestine
9	chr14:103951600-103972600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:103951600-103972800	Strong transcription	Dnd41	blood
11	chr14:103951600-103976600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:103952400-103968600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:103953000-103972800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr14:103953800-103977200	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr14:103953800-103978800	Strong transcription	Duodenum Mucosa	Duodenum
16	chr14:103955000-103967400	Weak transcription	Aorta	Aorta
17	chr14:103955200-103967800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:103956000-103969000	Weak transcription	Small Intestine	intestine
19	chr14:103958200-103978200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:103958800-103980400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:103959400-103968400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr14:103959800-103967600	Weak transcription	Colonic Mucosa	Colon
23	chr14:103960000-103978000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:103961800-103968600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr14:103962400-103967600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:103962600-103967400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:103962600-103967600	Weak transcription	Right Ventricle	heart
28	chr14:103962600-103968000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr14:103962600-103968200	Weak transcription	Psoas Muscle	Psoas
30	chr14:103962600-103978400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:103962600-103979000	Weak transcription	Right Atrium	heart
32	chr14:103963600-103978000	Strong transcription	Placenta	Placenta
33	chr14:103965000-103971800	Strong transcription	Primary B cells from cord blood	blood
34	chr14:103965000-103972200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:103965200-103972000	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr14:103965200-103978600	Strong transcription	Thymus	Thymus
37	chr14:103965400-103973400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr14:103965400-103977600	Strong transcription	Primary T cells from cord blood	blood
39	chr14:103965400-103978600	Strong transcription	Fetal Intestine Large	intestine
40	chr14:103965800-103968000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
41	chr14:103965800-103968200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
42	chr14:103965800-103968800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:103965800-103978200	Strong transcription	Left Ventricle	heart
44	chr14:103966000-103968800	Weak transcription	Fetal Brain Female	brain
45	chr14:103966000-103972200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:103966000-103973200	Strong transcription	Spleen	Spleen
47	chr14:103966200-103967400	Genic enhancers	Ovary	ovary
48	chr14:103966200-103967600	Enhancers	Brain Anterior Caudate	brain
49	chr14:103966200-103967600	Genic enhancers	Fetal Muscle Trunk	muscle
50	chr14:103966200-103967800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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