Variant report

Variant	rs12212632
Chromosome Location	chr6:27472416-27472417
allele	C/T
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27471243..27473118-chr6:27473124..27475261,2	K562	blood:
2	chr6:27472071..27474860-chr6:27486354..27488722,3	K562	blood:
3	chr6:27102170..27104953-chr6:27471758..27474293,3	K562	blood:
4	chr6:27438047..27443464-chr6:27468935..27473821,5	K562	blood:
5	chr6:27439182..27442586-chr6:27469972..27473821,4	K562	blood:
6	chr6:27246689..27248235-chr6:27471061..27472796,2	K562	blood:
7	chr6:27099480..27102388-chr6:27469674..27472608,2	K562	blood:
8	chr6:27443641..27445156-chr6:27470479..27473183,2	K562	blood:
9	chr6:27470766..27473245-chr6:27617195..27618782,2	K562	blood:
10	chr6:27112845..27117785-chr6:27470908..27475349,7	K562	blood:
11	chr6:27470846..27472818-chr6:27518187..27522174,4	K562	blood:
12	chr6:27470257..27473411-chr6:27494053..27498486,4	K562	blood:
13	chr6:27445186..27449983-chr6:27468978..27472948,6	K562	blood:
14	chr6:27469947..27474974-chr6:27485508..27488698,9	K562	blood:
15	chr6:27471116..27473574-chr6:27483046..27485939,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270666	Chromatin interaction
ENSG00000096654	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000124635	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10456051	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10456355	0.81[AMR][1000 genomes]
rs12189640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12191649	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12192560	0.93[AMR][1000 genomes]
rs12193557	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12194341	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12194842	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12195783	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12196452	1.00[AMR][1000 genomes]
rs12196970	0.86[AMR][1000 genomes]
rs12199685	1.00[AMR][1000 genomes]
rs12199806	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12202956	1.00[AMR][1000 genomes]
rs12204953	1.00[AMR][1000 genomes]
rs12205044	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12209174	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12209905	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12211931	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12212348	1.00[AMR][1000 genomes]
rs12212389	1.00[AMR][1000 genomes]
rs12213471	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12213533	1.00[AMR][1000 genomes]
rs12215289	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12215353	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12215386	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12215878	1.00[AMR][1000 genomes]
rs12374607	1.00[AMR][1000 genomes]
rs12374649	1.00[AMR][1000 genomes]
rs56099947	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57075114	0.88[EUR][1000 genomes]
rs60888769	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62617138	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71546544	0.84[AMR][1000 genomes]
rs72839468	0.86[AMR][1000 genomes]
rs72839469	0.86[AMR][1000 genomes]
rs72839470	0.86[AMR][1000 genomes]
rs72839471	1.00[AMR][1000 genomes]
rs72839474	1.00[AMR][1000 genomes]
rs72839479	1.00[AMR][1000 genomes]
rs72841397	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72841398	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72841399	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72841400	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72843151	1.00[AMR][1000 genomes]
rs72843177	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72843191	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72845006	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72845008	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72845011	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72845012	0.84[AMR][1000 genomes];0.88[EUR][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	0.93[AMR][1000 genomes]
rs72845232	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9348763	0.86[AMR][1000 genomes]
rs9368509	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9379975	0.86[AMR][1000 genomes]
rs9393814	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv462665	chr6:27458013-27547792	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv601203	chr6:27458013-27547792	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27471400-27474000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:27471600-27473200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:27471600-27473600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:27471600-27473800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr6:27471600-27479800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:27471800-27472600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr6:27471800-27473000	Enhancers	HepG2	liver
8	chr6:27471800-27473200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:27471800-27473200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:27471800-27473200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:27471800-27473200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:27471800-27473200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:27471800-27473600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr6:27471800-27474600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:27472000-27472600	Enhancers	K562	blood
16	chr6:27472000-27472800	Weak transcription	HMEC	breast
17	chr6:27472000-27473000	Weak transcription	A549	lung
18	chr6:27472000-27473000	Enhancers	GM12878-XiMat	blood
19	chr6:27472000-27473000	Weak transcription	Hela-S3	cervix
20	chr6:27472000-27473200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr6:27472000-27473200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:27472000-27473200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:27472000-27473200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:27472000-27473200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:27472000-27473200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:27472000-27473200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr6:27472000-27473400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:27472200-27473200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr6:27472200-27473600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr6:27472200-27473600	Weak transcription	Brain Hippocampus Middle	brain

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