Variant report

Variant	rs72845232
Chromosome Location	chr6:27428126-27428127
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27414915..27419456-chr6:27425103..27430538,5	MCF-7	breast:
2	chr6:27424492..27429899-chr6:27438525..27441854,6	K562	blood:
3	chr6:27427630..27430892-chr6:27435526..27437127,4	K562	blood:

Variant related genes	Relation type
ENSG00000096654	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10456051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10456355	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12189640	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12191649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12192560	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12193557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12194341	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12194842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12195783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12196452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12196970	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12199685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12199806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12202956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12204953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12205044	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12209174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12209905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12211931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12212348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12212389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12212632	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12213471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12213533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12215289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12215353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12215386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12215878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12374607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12374649	1.00[AMR][1000 genomes]
rs56099947	0.84[AMR][1000 genomes]
rs60888769	0.84[AMR][1000 genomes]
rs62617138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71546544	0.84[AMR][1000 genomes]
rs72839448	1.00[AFR][1000 genomes]
rs72839468	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs72839469	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs72839470	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs72839471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72839474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72839479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72841397	0.84[AMR][1000 genomes]
rs72841398	0.84[AMR][1000 genomes]
rs72841399	0.84[AMR][1000 genomes]
rs72841400	0.84[AMR][1000 genomes]
rs72843151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72843177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72843191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72845006	0.84[AMR][1000 genomes]
rs72845008	0.84[AMR][1000 genomes]
rs72845011	0.84[AMR][1000 genomes]
rs72845012	0.84[AMR][1000 genomes]
rs72845025	0.84[AMR][1000 genomes]
rs72845027	0.84[AMR][1000 genomes]
rs72845028	0.84[AMR][1000 genomes]
rs72845030	0.84[AMR][1000 genomes]
rs72845031	0.84[AMR][1000 genomes]
rs72845042	0.84[AMR][1000 genomes]
rs72845044	0.84[AMR][1000 genomes]
rs72845050	0.84[AMR][1000 genomes]
rs72845208	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9348763	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs9368509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9379975	0.86[AMR][1000 genomes]
rs9393814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
3	nsv830617	chr6:27424769-27598595	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27412600-27438000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:27414200-27430600	ZNF genes & repeats	Liver	Liver
3	chr6:27414400-27432000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr6:27415400-27430000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:27415400-27438600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:27415600-27429800	ZNF genes & repeats	Dnd41	blood
7	chr6:27415600-27430000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:27415600-27430000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:27415600-27430200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
10	chr6:27415800-27430000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:27415800-27430200	ZNF genes & repeats	Primary B cells from cord blood	blood
12	chr6:27415800-27434000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr6:27416000-27432400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:27416200-27432600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:27416600-27429200	ZNF genes & repeats	HSMM	muscle
16	chr6:27416800-27429400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
17	chr6:27416800-27430600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
18	chr6:27417200-27432600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:27417600-27430000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
20	chr6:27417800-27429400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr6:27418000-27430200	ZNF genes & repeats	GM12878-XiMat	blood
22	chr6:27422800-27428200	Weak transcription	Stomach Mucosa	stomach
23	chr6:27422800-27429000	Strong transcription	Brain Hippocampus Middle	brain
24	chr6:27422800-27430000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:27422800-27430400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:27423000-27430200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:27424000-27439800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:27425000-27438800	Weak transcription	Colon Smooth Muscle	Colon
29	chr6:27425200-27428200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr6:27425200-27428600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:27425200-27428600	Weak transcription	Spleen	Spleen
32	chr6:27425200-27429400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:27425200-27433800	Weak transcription	Psoas Muscle	Psoas
34	chr6:27425200-27435000	Weak transcription	Right Ventricle	heart
35	chr6:27425400-27428200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr6:27425400-27428200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr6:27425400-27428200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr6:27425400-27428400	Weak transcription	Brain Angular Gyrus	brain
39	chr6:27425400-27428400	Weak transcription	A549	lung
40	chr6:27425400-27435200	Weak transcription	Brain Substantia Nigra	brain
41	chr6:27425400-27438400	Weak transcription	Fetal Brain Male	brain
42	chr6:27425600-27428200	Weak transcription	HepG2	liver
43	chr6:27425600-27428200	Weak transcription	NHDF-Ad	bronchial
44	chr6:27425600-27428400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr6:27425600-27439400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr6:27426000-27430000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:27426200-27429600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
48	chr6:27426200-27429800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:27426200-27430000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr6:27426400-27429800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood

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