Variant report

Variant	rs12527329
Chromosome Location	chr6:35610751-35610752
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35610364..35613285-chr6:35617762..35619344,2	K562	blood:
2	chr6:35605088..35607255-chr6:35609543..35611672,2	K562	blood:
3	chr6:35610446..35613724-chr6:35650796..35653465,3	K562	blood:
4	chr6:35609379..35614533-chr6:35694421..35697817,5	K562	blood:

Variant related genes	Relation type
ENSG00000096060	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10498734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11545925	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12526404	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12527303	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12527893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12528458	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12529688	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12665445	1.00[AFR][1000 genomes]
rs1334894	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16877540	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs16878812	0.84[AMR][1000 genomes]
rs1807142	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1883637	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1977654	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1977655	0.94[EUR][1000 genomes]
rs2103680	1.00[AFR][1000 genomes]
rs2294807	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55791123	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs55922240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56062505	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56313753	1.00[AFR][1000 genomes]
rs56318292	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56353810	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6906096	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6906359	0.83[AMR][1000 genomes]
rs72894781	1.00[AFR][1000 genomes]
rs72894784	1.00[AFR][1000 genomes]
rs72899748	0.82[EUR][1000 genomes]
rs72899772	0.85[EUR][1000 genomes]
rs72899794	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72899796	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72911380	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72911394	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72911397	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72913405	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72913412	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72913417	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72913423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72913427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72921231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs747411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs755658	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7754668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7756437	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7765792	0.85[EUR][1000 genomes]
rs7768598	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9688674	1.00[AFR][1000 genomes]
rs9689799	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv602924	chr6:35505311-35750299	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv885801	chr6:35537406-35671651	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv3430300	chr6:35549151-35959004	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	esv1812273	chr6:35597703-35629285	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv5258	chr6:35601724-35658344	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	nsv821646	chr6:35604428-35802594	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	esv1848884	chr6:35607571-35629669	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35570800-35611400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:35571200-35611800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:35575000-35611600	Strong transcription	Liver	Liver
4	chr6:35577600-35613200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:35585600-35610800	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:35586800-35613800	Weak transcription	Fetal Stomach	stomach
7	chr6:35588200-35630800	Weak transcription	Colonic Mucosa	Colon
8	chr6:35592000-35611400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:35592800-35612000	Weak transcription	HepG2	liver
10	chr6:35594200-35614800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:35594600-35614600	Strong transcription	Fetal Thymus	thymus
12	chr6:35597000-35615400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr6:35597400-35613000	Strong transcription	K562	blood
14	chr6:35597600-35611800	Strong transcription	Left Ventricle	heart
15	chr6:35597800-35614200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr6:35600000-35611200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr6:35601000-35611400	Strong transcription	Thymus	Thymus
18	chr6:35601400-35612000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
19	chr6:35602000-35613600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:35602200-35611400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:35602600-35610800	Weak transcription	NHLF	lung
22	chr6:35602600-35612000	Weak transcription	Stomach Mucosa	stomach
23	chr6:35602800-35612000	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr6:35603600-35611000	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr6:35605000-35621600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:35605400-35614400	Strong transcription	HSMM	muscle
27	chr6:35606000-35611200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:35606000-35614000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr6:35606200-35611600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:35606400-35614600	Strong transcription	Primary T cells from cord blood	blood
31	chr6:35607200-35611200	Strong transcription	Adipose Nuclei	Adipose
32	chr6:35607400-35613000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr6:35608200-35613200	Weak transcription	Hela-S3	cervix
34	chr6:35608200-35614200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:35608200-35614800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:35608200-35622400	Weak transcription	Fetal Heart	heart
37	chr6:35608600-35611600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr6:35608800-35611000	Weak transcription	Osteobl	bone
39	chr6:35608800-35611400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:35608800-35616000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:35609000-35611200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr6:35609000-35612400	Weak transcription	Brain Hippocampus Middle	brain
43	chr6:35609000-35622400	Weak transcription	Colon Smooth Muscle	Colon
44	chr6:35609000-35622400	Weak transcription	Esophagus	oesophagus
45	chr6:35609400-35610800	Weak transcription	Brain Substantia Nigra	brain
46	chr6:35609400-35611000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr6:35609400-35611200	Weak transcription	Fetal Kidney	kidney
48	chr6:35609400-35611400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr6:35609400-35611400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr6:35609400-35611600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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