Variant report

Variant	rs12191321
Chromosome Location	chr6:71303187-71303188
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:71303013-71303202	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:71295996..71298551-chr6:71301722..71304064,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271967	TF binding region

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10214805	0.88[EUR][1000 genomes]
rs10455706	0.93[EUR][1000 genomes]
rs1048886	0.91[EUR][1000 genomes]
rs10945230	0.88[EUR][1000 genomes]
rs10945231	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10945235	0.96[EUR][1000 genomes]
rs11965656	0.82[EUR][1000 genomes]
rs12197942	0.88[EUR][1000 genomes]
rs12197963	0.88[EUR][1000 genomes]
rs12200777	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12201029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203089	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12203298	0.88[EUR][1000 genomes]
rs12209965	0.88[EUR][1000 genomes]
rs12216376	0.88[EUR][1000 genomes]
rs12524814	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12525538	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12525777	0.85[EUR][1000 genomes]
rs12526164	0.86[EUR][1000 genomes]
rs12526787	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12526827	0.82[EUR][1000 genomes]
rs12526961	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12527634	0.83[EUR][1000 genomes]
rs12528385	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12528866	0.82[EUR][1000 genomes]
rs12529284	0.88[EUR][1000 genomes]
rs12529309	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12530057	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12530358	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16869267	0.82[EUR][1000 genomes]
rs16869353	0.88[EUR][1000 genomes]
rs16869371	0.88[EUR][1000 genomes]
rs16869373	0.88[EUR][1000 genomes]
rs17634272	0.80[AMR][1000 genomes]
rs17634491	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17635446	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17635510	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17706748	0.80[AMR][1000 genomes]
rs17706833	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17713105	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17713212	0.85[EUR][1000 genomes]
rs17713547	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2207423	0.86[EUR][1000 genomes]
rs2207425	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2273210	0.82[EUR][1000 genomes]
rs2293297	0.88[EUR][1000 genomes]
rs2295200	0.83[EUR][1000 genomes]
rs2346890	0.83[EUR][1000 genomes]
rs2691486	0.89[EUR][1000 genomes]
rs2691488	0.89[EUR][1000 genomes]
rs2691490	0.89[EUR][1000 genomes]
rs2691493	0.87[EUR][1000 genomes]
rs2691494	0.89[EUR][1000 genomes]
rs2691495	0.87[EUR][1000 genomes]
rs2691496	0.89[EUR][1000 genomes]
rs2842081	0.89[EUR][1000 genomes]
rs2881632	0.92[EUR][1000 genomes]
rs3193656	0.88[EUR][1000 genomes]
rs34246525	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35159719	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41265349	0.80[AMR][1000 genomes]
rs55639214	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55761717	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55968813	0.82[EUR][1000 genomes]
rs55990831	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56074506	0.88[EUR][1000 genomes]
rs56114703	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56143128	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56179165	0.88[EUR][1000 genomes]
rs56322111	0.88[EUR][1000 genomes]
rs56397968	0.80[AMR][1000 genomes]
rs58637377	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6901232	0.88[EUR][1000 genomes]
rs6901904	0.82[EUR][1000 genomes]
rs6911983	0.88[EUR][1000 genomes]
rs6913548	0.83[EUR][1000 genomes]
rs6916974	0.88[EUR][1000 genomes]
rs6920515	0.91[EUR][1000 genomes]
rs6933150	0.83[EUR][1000 genomes]
rs6941595	0.88[EUR][1000 genomes]
rs73474998	0.82[EUR][1000 genomes]
rs73478819	0.82[EUR][1000 genomes]
rs73480275	0.88[EUR][1000 genomes]
rs73480280	0.88[EUR][1000 genomes]
rs73482554	0.82[EUR][1000 genomes]
rs73482557	0.82[EUR][1000 genomes]
rs73482585	0.82[EUR][1000 genomes]
rs7450771	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7741265	0.96[EUR][1000 genomes]
rs7756774	0.88[EUR][1000 genomes]
rs7757026	0.88[EUR][1000 genomes]
rs9294872	0.82[EUR][1000 genomes]
rs9455113	0.82[EUR][1000 genomes]
rs9455121	0.82[EUR][1000 genomes]
rs9455139	0.81[EUR][1000 genomes]
rs9455140	0.81[EUR][1000 genomes]
rs9455150	0.88[EUR][1000 genomes]
rs9455151	0.88[EUR][1000 genomes]
rs9455161	0.88[EUR][1000 genomes]
rs9455162	0.88[EUR][1000 genomes]
rs9455163	0.88[EUR][1000 genomes]
rs9455168	0.91[EUR][1000 genomes]
rs9455177	0.93[EUR][1000 genomes]
rs9455181	0.96[EUR][1000 genomes]
rs9455182	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv886145	chr6:71119524-71317480	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv886146	chr6:71219464-71317480	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv886147	chr6:71273253-71471863	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71277200-71303200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:71277200-71310600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:71278000-71305200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr6:71278200-71308800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:71278600-71308800	Weak transcription	Dnd41	blood
6	chr6:71286000-71303200	Weak transcription	Psoas Muscle	Psoas
7	chr6:71286000-71304800	Weak transcription	Gastric	stomach
8	chr6:71286200-71310600	Weak transcription	Right Ventricle	heart
9	chr6:71288400-71309800	Weak transcription	Spleen	Spleen
10	chr6:71289800-71310200	Weak transcription	Colonic Mucosa	Colon
11	chr6:71291400-71307800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:71291600-71304800	Weak transcription	Brain Angular Gyrus	brain
13	chr6:71291600-71310000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:71292400-71304600	Weak transcription	Brain Germinal Matrix	brain
15	chr6:71292600-71305800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr6:71292600-71310000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:71295000-71304400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:71295400-71305000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:71295400-71308800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:71295400-71314000	Weak transcription	Aorta	Aorta
21	chr6:71295800-71306200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:71295800-71307200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr6:71295800-71309000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr6:71296000-71303200	Weak transcription	Fetal Brain Female	brain
25	chr6:71296200-71303200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:71296200-71303800	Weak transcription	Fetal Intestine Large	intestine
27	chr6:71296200-71304400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr6:71296200-71310600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr6:71297600-71303400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:71297800-71303200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:71298000-71304400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr6:71298000-71310800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:71300600-71303400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:71300600-71303800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:71300600-71304200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:71300800-71303200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr6:71300800-71304200	Weak transcription	Fetal Muscle Leg	muscle
38	chr6:71300800-71304600	Weak transcription	Brain Hippocampus Middle	brain
39	chr6:71300800-71305400	Weak transcription	Brain Anterior Caudate	brain
40	chr6:71300800-71310200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr6:71301000-71303200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr6:71301000-71304800	Weak transcription	Liver	Liver
43	chr6:71301000-71304800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:71301000-71309600	Weak transcription	Ovary	ovary
45	chr6:71301000-71310000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr6:71301200-71303400	Strong transcription	Fetal Intestine Small	intestine
47	chr6:71301200-71306400	Weak transcription	Primary B cells from cord blood	blood
48	chr6:71301200-71308800	Weak transcription	Primary T cells from cord blood	blood
49	chr6:71301200-71309800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr6:71301600-71303200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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