Variant report

Variant	rs4593350
Chromosome Location	chr6:26184800-26184801
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:26054953..26059351-chr6:26183267..26187731,5	MCF-7	breast:
2	chr6:26183858..26185495-chr7:104652929..104654673,2	MCF-7	breast:
3	chr6:26044671..26047980-chr6:26183838..26186075,3	MCF-7	breast:
4	chr6:26182173..26185335-chr6:27780962..27783737,3	MCF-7	breast:
5	chr6:26032288..26035408-chr6:26183846..26189517,7	MCF-7	breast:
6	chr6:26183066..26187877-chr6:27774821..27779151,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000005483	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000196374	Chromatin interaction
ENSG00000182611	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000196532	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1000308	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10484437	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11753625	0.87[AFR][1000 genomes]
rs1341758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16891404	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16891417	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16891421	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16891427	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16891440	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16891450	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16891453	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16891458	1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16891471	0.83[ASN][1000 genomes]
rs16891477	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16891497	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16891501	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16891505	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17533076	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]
rs17598764	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17600910	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs34550794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3818947	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41266803	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41266805	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55856153	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56360223	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56372675	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61910695	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9379827	1.00[YRI][hapmap]
rs9379829	1.00[YRI][hapmap]
rs9379830	1.00[YRI][hapmap]
rs989710	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
4	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
5	nsv1025237	chr6:25874326-26280867	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
6	nsv538163	chr6:25874326-26280867	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
7	nsv428137	chr6:25987413-26351920	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1181 gene(s)	inside rSNPs	diseases
8	nsv916992	chr6:25991630-26280921	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1159 gene(s)	inside rSNPs	diseases
9	nsv1028232	chr6:26005449-26319756	Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1171 gene(s)	inside rSNPs	diseases
10	nsv870314	chr6:26008435-26280807	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1151 gene(s)	inside rSNPs	diseases
11	nsv1023457	chr6:26014014-26305407	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1170 gene(s)	inside rSNPs	diseases
12	nsv1025493	chr6:26026870-26223838	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1001 gene(s)	inside rSNPs	diseases
13	nsv1023979	chr6:26026870-26287399	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1113 gene(s)	inside rSNPs	diseases
14	nsv1015782	chr6:26026870-26323895	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1114 gene(s)	inside rSNPs	diseases
15	nsv1018665	chr6:26026870-26352046	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1116 gene(s)	inside rSNPs	diseases
16	nsv482348	chr6:26082709-26261136	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	799 gene(s)	inside rSNPs	diseases
17	nsv518431	chr6:26148311-26211368	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	521 gene(s)	inside rSNPs	diseases
18	nsv526456	chr6:26148311-26211368	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	521 gene(s)	inside rSNPs	diseases
19	nsv883490	chr6:26172219-26231608	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	316 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26182000-26193000	Weak transcription	Dnd41	blood
2	chr6:26183000-26185000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr6:26183200-26184800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr6:26183200-26184800	Active TSS	H1 Cell Line	embryonic stem cell
5	chr6:26183200-26184800	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr6:26183200-26184800	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr6:26183200-26184800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:26183200-26184800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:26183200-26184800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr6:26183200-26184800	Active TSS	Right Ventricle	heart
11	chr6:26183200-26185000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:26183200-26185000	Active TSS	Fetal Brain Female	brain
13	chr6:26183200-26185200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr6:26183200-26185400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:26183400-26184800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:26183400-26184800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:26183400-26184800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr6:26183400-26184800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr6:26183400-26184800	Active TSS	Aorta	Aorta
20	chr6:26183400-26184800	Flanking Active TSS	Liver	Liver
21	chr6:26183400-26184800	Active TSS	Brain Anterior Caudate	brain
22	chr6:26183400-26184800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr6:26183400-26185000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:26183400-26185000	Active TSS	A549	lung
25	chr6:26183400-26185000	Flanking Active TSS	HUVEC	blood vessel
26	chr6:26183400-26185000	Flanking Active TSS	NHEK	skin
27	chr6:26183400-26185200	Active TSS	H9 Cell Line	embryonic stem cell
28	chr6:26183400-26185400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr6:26183400-26185400	Active TSS	Colonic Mucosa	Colon
30	chr6:26183400-26185400	Flanking Active TSS	GM12878-XiMat	blood
31	chr6:26183400-26185600	Strong transcription	K562	blood
32	chr6:26183600-26184800	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr6:26183600-26185000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:26183600-26185400	Enhancers	Spleen	Spleen
35	chr6:26184000-26184800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:26184000-26185200	Flanking Active TSS	HMEC	breast
37	chr6:26184200-26184800	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr6:26184200-26184800	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr6:26184200-26184800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr6:26184200-26184800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr6:26184200-26184800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr6:26184400-26184800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:26184400-26184800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:26184400-26184800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:26184400-26184800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr6:26184400-26184800	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr6:26184400-26184800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr6:26184400-26184800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:26184400-26184800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:26184400-26184800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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