Variant report

Variant	rs1548265
Chromosome Location	chr14:68546300-68546301
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68542852..68544986-chr14:68546173..68547704,2	K562	blood:
2	chr14:68545168..68548023-chr14:69259311..69261898,2	MCF-7	breast:
3	chr14:68546114..68557712-chr14:68603959..68613316,23	MCF-7	breast:
4	chr14:68546000..68548241-chr14:68549428..68552424,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 159 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:158)

rs_ID	r²[population]
rs10129355	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10129612	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10130829	0.81[EUR][1000 genomes]
rs10132022	0.80[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10133262	0.85[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap]
rs10133883	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10134124	0.81[JPT][hapmap]
rs10134664	0.81[JPT][hapmap]
rs10135046	0.81[JPT][hapmap]
rs10135256	0.81[JPT][hapmap]
rs10136129	0.85[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs10136790	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[YRI][hapmap]
rs10136868	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10137233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140097	0.85[CEU][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10140282	0.81[EUR][1000 genomes]
rs10140420	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143455	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10143843	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs10144224	0.81[JPT][hapmap]
rs10145197	0.81[JPT][hapmap]
rs10147311	0.88[JPT][hapmap]
rs10148527	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs10150584	0.81[JPT][hapmap]
rs10151115	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1080956	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1080957	1.00[CEU][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1080958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158715	0.80[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs11158717	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11158718	0.81[CEU][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11158719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158720	0.81[JPT][hapmap]
rs11158721	0.81[JPT][hapmap]
rs11622243	0.81[EUR][1000 genomes]
rs11622787	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs11623355	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11623467	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623984	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11624209	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624484	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11628745	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11629073	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11844529	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap];0.81[EUR][1000 genomes]
rs11844842	0.81[JPT][hapmap]
rs11846344	0.85[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.81[EUR][1000 genomes]
rs11847339	0.81[JPT][hapmap]
rs11848187	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11850191	0.85[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.81[EUR][1000 genomes]
rs11851991	0.81[JPT][hapmap]
rs11852180	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap];0.81[EUR][1000 genomes]
rs12100584	0.85[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap]
rs12431697	0.80[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs12432681	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12436203	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12437043	0.86[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs12437178	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs13329056	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs1548264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104764	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap]
rs17104776	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap]
rs17104800	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs17104862	0.81[JPT][hapmap]
rs17104863	0.81[JPT][hapmap]
rs17104880	0.81[JPT][hapmap]
rs17104889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104900	0.81[JPT][hapmap]
rs17104908	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17104917	0.81[JPT][hapmap]
rs17104947	0.81[JPT][hapmap]
rs17104992	0.81[JPT][hapmap]
rs17105001	0.81[JPT][hapmap]
rs1810639	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951411	0.81[JPT][hapmap]
rs1980654	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1980655	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2093358	0.81[ASN][1000 genomes]
rs2208596	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2588832	0.83[JPT][hapmap]
rs2588833	0.83[JPT][hapmap]
rs2767366	0.83[JPT][hapmap]
rs28470365	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28474827	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28509330	0.81[EUR][1000 genomes]
rs2877369	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap]
rs33949561	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372143	0.83[JPT][hapmap]
rs373918	0.83[JPT][hapmap]
rs401021	0.83[JPT][hapmap]
rs408156	0.83[JPT][hapmap]
rs411547	0.80[CEU][hapmap];0.82[JPT][hapmap]
rs431649	0.83[JPT][hapmap]
rs437585	0.80[CEU][hapmap];0.83[JPT][hapmap]
rs4436722	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs448445	0.80[CEU][hapmap]
rs4899231	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899232	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902535	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap]
rs4902536	0.85[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap]
rs4902538	0.85[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap]
rs4902540	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap];0.81[EUR][1000 genomes]
rs4902544	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4902545	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4902547	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902548	0.81[JPT][hapmap]
rs4902550	0.81[JPT][hapmap]
rs57069083	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57990032	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60201005	0.82[EUR][1000 genomes]
rs60471554	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6573805	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573814	0.85[CEU][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6573815	0.81[JPT][hapmap]
rs6573816	0.81[JPT][hapmap]
rs67566613	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68139749	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142112	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap]
rs7142210	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap]
rs7146354	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap]
rs7147522	0.81[JPT][hapmap]
rs7147935	0.81[JPT][hapmap]
rs7148799	0.81[JPT][hapmap]
rs7149343	0.81[JPT][hapmap]
rs7150168	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7151235	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs7154228	0.81[JPT][hapmap]
rs7154646	0.85[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.81[EUR][1000 genomes]
rs7155097	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap]
rs7155840	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs7156822	0.87[ASN][1000 genomes]
rs7157152	0.82[JPT][hapmap]
rs7157185	0.85[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.81[EUR][1000 genomes]
rs7158544	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7160115	0.81[EUR][1000 genomes]
rs7161069	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72725183	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72725185	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72725186	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72725187	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72725188	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72725190	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7359083	0.81[JPT][hapmap]
rs8006492	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8007347	0.81[JPT][hapmap]
rs8011621	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012493	0.81[JPT][hapmap]
rs8013677	0.84[CEU][hapmap];0.89[YRI][hapmap]
rs8014000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs8016525	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap]
rs8018029	0.81[JPT][hapmap]
rs8020795	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9323501	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs9323502	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs957930	0.81[JPT][hapmap]
rs9672142	0.90[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68532400-68552400	Weak transcription	Ovary	ovary
2	chr14:68541600-68547200	Weak transcription	Fetal Lung	lung
3	chr14:68541800-68547200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:68542000-68547000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr14:68542200-68547200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:68542200-68555000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:68542400-68546800	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:68542600-68546600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:68542600-68546600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:68542600-68547000	Weak transcription	Gastric	stomach
11	chr14:68542600-68548000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:68542600-68551000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:68542600-68552400	Weak transcription	Lung	lung
14	chr14:68542800-68547000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:68542800-68547000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr14:68542800-68547200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:68542800-68547200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr14:68542800-68552000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:68542800-68552400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:68542800-68555400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:68543000-68546600	Weak transcription	HepG2	liver
22	chr14:68543000-68546800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:68543200-68546800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:68543800-68549200	Weak transcription	NHEK	skin
25	chr14:68544000-68549200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:68544000-68550600	Weak transcription	Fetal Intestine Small	intestine
27	chr14:68544000-68555000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:68544400-68546600	Weak transcription	A549	lung
29	chr14:68545600-68547000	Enhancers	Primary B cells from cord blood	blood
30	chr14:68545800-68546400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr14:68545800-68555800	Weak transcription	Small Intestine	intestine
32	chr14:68546200-68554800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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