Variant report

Variant	rs10135412
Chromosome Location	chr14:31413652-31413653
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	chr14:31412013..31413799-chr14:31413815..31415852,2	MCF-7	breast:
2	chr14:31412377..31414525-chr14:31418622..31420542,2	MCF-7	breast:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10138011	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10138452	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10140025	0.84[ASN][1000 genomes]
rs10140238	0.98[ASN][1000 genomes]
rs10145545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147690	0.98[ASN][1000 genomes]
rs10151219	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1033559	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10444696	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10872846	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10872848	0.95[ASN][1000 genomes]
rs11621991	0.83[ASN][1000 genomes]
rs12019004	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12434740	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12436401	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12590617	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12884687	0.94[ASN][1000 genomes]
rs12894339	0.82[ASN][1000 genomes]
rs17097477	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17448194	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs179698	0.83[ASN][1000 genomes]
rs179699	0.83[ASN][1000 genomes]
rs179701	0.83[ASN][1000 genomes]
rs179702	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs179704	0.83[ASN][1000 genomes]
rs179705	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs179706	0.84[ASN][1000 genomes]
rs179707	0.85[ASN][1000 genomes]
rs179709	0.85[ASN][1000 genomes]
rs179710	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs179712	0.85[ASN][1000 genomes]
rs179714	0.84[ASN][1000 genomes]
rs179717	0.84[ASN][1000 genomes]
rs179718	0.84[ASN][1000 genomes]
rs179720	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs179721	0.83[ASN][1000 genomes]
rs179722	0.82[ASN][1000 genomes]
rs179725	0.81[ASN][1000 genomes]
rs179726	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs179731	0.82[ASN][1000 genomes]
rs179733	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs179734	0.82[ASN][1000 genomes]
rs179736	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs179737	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs179744	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1884057	0.95[ASN][1000 genomes]
rs1967699	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2024662	0.85[ASN][1000 genomes]
rs2144040	0.95[ASN][1000 genomes]
rs2179934	0.95[ASN][1000 genomes]
rs2273171	0.84[ASN][1000 genomes]
rs2378813	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28535014	0.94[ASN][1000 genomes]
rs28648046	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35422372	0.81[AMR][1000 genomes]
rs3898581	0.94[ASN][1000 genomes]
rs4340230	0.95[ASN][1000 genomes]
rs4981811	0.95[ASN][1000 genomes]
rs4981812	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6571380	0.87[ASN][1000 genomes]
rs66463317	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67209135	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67648672	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7140306	0.84[ASN][1000 genomes]
rs7140667	0.91[ASN][1000 genomes]
rs7143488	0.82[ASN][1000 genomes]
rs7149411	0.80[ASN][1000 genomes]
rs7150581	0.92[ASN][1000 genomes]
rs7150642	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7153141	0.98[ASN][1000 genomes]
rs7154042	0.95[ASN][1000 genomes]
rs7155894	0.84[ASN][1000 genomes]
rs72668352	0.80[EUR][1000 genomes]
rs72668364	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72668370	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7350754	0.95[ASN][1000 genomes]
rs766146	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8018402	0.97[ASN][1000 genomes]
rs9322865	0.80[ASN][1000 genomes]
rs9322866	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9322869	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv832762	chr14:31238634-31414038	Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv901585	chr14:31365884-31433473	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv564177	chr14:31381351-31425437	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv456197	chr14:31386426-31417816	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv564178	chr14:31386426-31417816	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31355800-31414400	Weak transcription	Spleen	Spleen
3	chr14:31358000-31428200	Weak transcription	Small Intestine	intestine
4	chr14:31360200-31435600	Weak transcription	Gastric	stomach
5	chr14:31362200-31414400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr14:31362400-31435400	Weak transcription	Colonic Mucosa	Colon
7	chr14:31363000-31430600	Weak transcription	Brain Angular Gyrus	brain
8	chr14:31363000-31435200	Weak transcription	Esophagus	oesophagus
9	chr14:31364400-31415400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:31365800-31414200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:31365800-31435600	Weak transcription	Right Ventricle	heart
12	chr14:31370000-31414400	Weak transcription	Pancreas	Pancrea
13	chr14:31372400-31414400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:31377800-31435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:31378000-31414400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:31378000-31439000	Weak transcription	Psoas Muscle	Psoas
17	chr14:31378800-31435200	Weak transcription	Aorta	Aorta
18	chr14:31378800-31435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:31379000-31413800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:31380400-31415400	Weak transcription	Brain Germinal Matrix	brain
21	chr14:31381200-31414400	Weak transcription	Fetal Brain Female	brain
22	chr14:31381400-31414600	Weak transcription	NHLF	lung
23	chr14:31381400-31416600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:31381800-31414400	Weak transcription	K562	blood
25	chr14:31394200-31414400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:31394200-31414400	Weak transcription	Lung	lung
27	chr14:31394800-31414400	Weak transcription	Fetal Kidney	kidney
28	chr14:31395000-31435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:31395000-31435200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr14:31396600-31429600	Weak transcription	Brain Substantia Nigra	brain
31	chr14:31398200-31414400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr14:31398400-31426200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:31400000-31414400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr14:31400200-31425600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:31401000-31415400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr14:31401400-31414600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr14:31403000-31414800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:31403600-31414400	Weak transcription	Ovary	ovary
39	chr14:31403600-31414400	Weak transcription	Thymus	Thymus
40	chr14:31404400-31413800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr14:31404600-31414400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr14:31405200-31414400	Weak transcription	Brain Anterior Caudate	brain
43	chr14:31405200-31416200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr14:31405600-31414400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:31405600-31414600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr14:31405600-31415600	Weak transcription	NHDF-Ad	bronchial
47	chr14:31405800-31414200	Weak transcription	NHEK	skin
48	chr14:31405800-31422800	Weak transcription	Fetal Brain Male	brain
49	chr14:31406000-31414400	Weak transcription	Fetal Thymus	thymus
50	chr14:31406000-31416800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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