Variant report

Variant	rs12212317
Chromosome Location	chr6:26986553-26986554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26985450..26988105-chr6:27045850..27047500,2	MCF-7	breast:
2	chr6:26986141..26989315-chr6:27099693..27102722,3	K562	blood:
3	chr6:26984517..26987558-chr6:27114844..27118059,3	K562	blood:
4	chr6:26986048..26988342-chr8:145752952..145755516,2	MCF-7	breast:
5	chr6:26969414..26971961-chr6:26985558..26987515,2	K562	blood:
6	chr6:26985479..26987950-chr6:27115470..27119189,3	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIST1H2BJ-8	chr6:26985858-26989416	NONHSAT108322

No data

Variant related genes	Relation type
ENSG00000184825	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000272312	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000213563	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10456349	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10946896	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10946900	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1102557	0.85[ASN][1000 genomes]
rs11961179	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11961181	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11961960	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11962196	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966939	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11969887	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12153912	0.85[ASN][1000 genomes]
rs12190201	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192049	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12192320	0.94[ASN][1000 genomes]
rs12192446	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12192502	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192766	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12192793	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12193463	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193511	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193820	0.94[ASN][1000 genomes]
rs12195041	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195144	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12196889	0.88[ASN][1000 genomes]
rs12199218	0.88[ASN][1000 genomes]
rs12200482	0.82[EUR][1000 genomes]
rs12200985	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201498	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12201774	0.94[ASN][1000 genomes]
rs12203145	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203454	0.88[ASN][1000 genomes]
rs12203728	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12204280	0.88[ASN][1000 genomes]
rs12205921	0.94[ASN][1000 genomes]
rs12206996	0.94[ASN][1000 genomes]
rs12207614	0.82[ASN][1000 genomes]
rs12208039	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12208534	0.94[ASN][1000 genomes]
rs12209393	0.94[ASN][1000 genomes]
rs12209429	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12209456	0.94[ASN][1000 genomes]
rs12210905	0.85[ASN][1000 genomes]
rs12213361	0.91[ASN][1000 genomes]
rs12214848	0.94[ASN][1000 genomes]
rs12214930	0.94[ASN][1000 genomes]
rs12215241	0.91[ASN][1000 genomes]
rs12215773	0.91[ASN][1000 genomes]
rs13207365	0.88[ASN][1000 genomes]
rs17345718	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3531	0.94[ASN][1000 genomes]
rs36048693	0.88[ASN][1000 genomes]
rs3922717	0.88[ASN][1000 genomes]
rs3999221	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41269245	0.94[ASN][1000 genomes]
rs4541737	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4636015	0.94[ASN][1000 genomes]
rs6911234	0.94[ASN][1000 genomes]
rs6920115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931711	0.85[ASN][1000 genomes]
rs6937764	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6937955	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6940638	0.91[ASN][1000 genomes]
rs72838236	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72838238	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72838243	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72838245	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72838249	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72838258	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72838260	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72838262	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72838263	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72838266	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72838268	0.91[ASN][1000 genomes]
rs72842200	0.94[ASN][1000 genomes]
rs72843607	0.94[ASN][1000 genomes]
rs72843608	0.94[ASN][1000 genomes]
rs72843609	0.91[ASN][1000 genomes]
rs72843611	0.91[ASN][1000 genomes]
rs72843613	0.91[ASN][1000 genomes]
rs72843615	0.85[ASN][1000 genomes]
rs72843619	0.88[ASN][1000 genomes]
rs72843629	0.85[ASN][1000 genomes]
rs72843633	0.85[ASN][1000 genomes]
rs7740207	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7753123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7753284	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756481	0.94[ASN][1000 genomes]
rs7757680	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7773336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs858995	0.85[ASN][1000 genomes]
rs9461316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467939	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9467940	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9467942	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467948	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9467965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467971	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	esv2758038	chr6:26695219-27095714	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
3	esv2759410	chr6:26695219-27095714	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
4	nsv1029124	chr6:26825468-27109774	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	244 gene(s)	inside rSNPs	diseases
5	nsv469610	chr6:26841083-26999230	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv482509	chr6:26841083-26999230	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv471636	chr6:26841084-27038175	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv469675	chr6:26848950-27015598	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv482429	chr6:26848950-27015598	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv830616	chr6:26859097-27030476	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	esv1793267	chr6:26864376-26987405	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	esv1811325	chr6:26869783-26987405	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	esv1795223	chr6:26877074-26987205	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	esv1809024	chr6:26877074-26987205	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	esv1810582	chr6:26889428-26990246	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
16	nsv469625	chr6:26893739-27038175	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	nsv482537	chr6:26893739-27038175	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	esv15177	chr6:26916403-26987915	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26975200-26986600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:26976200-26986600	Weak transcription	Fetal Brain Male	brain
3	chr6:26976800-26987400	Weak transcription	Pancreas	Pancrea
4	chr6:26977000-26987000	Weak transcription	Ovary	ovary
5	chr6:26979200-26986800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:26985000-26986600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:26985600-26987200	Weak transcription	Aorta	Aorta
8	chr6:26986000-26987000	Flanking Active TSS	K562	blood
9	chr6:26986200-26986600	Flanking Active TSS	Hela-S3	cervix
10	chr6:26986200-26987000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:26986200-26988600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr6:26986200-26988600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:26986200-26988800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr6:26986400-26986600	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr6:26986400-26986600	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr6:26986400-26986600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr6:26986400-26986600	Enhancers	Brain Hippocampus Middle	brain
18	chr6:26986400-26986600	Enhancers	A549	lung
19	chr6:26986400-26986600	Enhancers	HMEC	breast
20	chr6:26986400-26986800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:26986400-26986800	ZNF genes & repeats	Brain Substantia Nigra	brain
22	chr6:26986400-26987000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:26986400-26987000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:26986400-26988400	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr6:26986400-26988600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:26986400-26988800	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr6:26986400-26988800	Active TSS	iPS-20b Cell Line	embryonic stem cell

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