Variant report

Variant	rs12211110
Chromosome Location	chr6:37466232-37466233
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37465289..37468195-chr6:37607347..37609837,2	K562	blood:
2	chr6:37448778..37451469-chr6:37463694..37466649,2	K562	blood:
3	chr6:37463837..37466464-chr6:37476098..37478071,3	K562	blood:
4	chr6:37465876..37467537-chr6:37659500..37661508,2	K562	blood:
5	chr6:37465742..37467547-chr6:37480030..37482187,2	MCF-7	breast:
6	chr6:37452990..37456369-chr6:37463812..37466534,3	K562	blood:
7	chr6:37224156..37226684-chr6:37465012..37467038,2	K562	blood:
8	chr6:37214851..37217818-chr6:37465538..37467566,2	K562	blood:
9	chr6:37442615..37445754-chr6:37464908..37469103,3	K562	blood:
10	chr6:37465143..37467557-chr6:37524766..37526974,2	K562	blood:
11	chr6:37465889..37467468-chr6:37472296..37474310,2	K562	blood:
12	chr6:37464981..37466584-chr6:37488275..37490283,2	K562	blood:
13	chr6:37463945..37467008-chr6:37467223..37469909,3	MCF-7	breast:
14	chr6:37438746..37442515-chr6:37463014..37466587,3	K562	blood:
15	chr6:37428422..37430871-chr6:37464964..37466724,2	K562	blood:
16	chr6:37463721..37466572-chr6:37527557..37531360,4	K562	blood:
17	chr6:37278969..37281772-chr6:37464044..37467373,3	K562	blood:
18	chr6:37448946..37451391-chr6:37464839..37466723,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000065491	Chromatin interaction
ENSG00000112139	Chromatin interaction
ENSG00000172738	Chromatin interaction
ENSG00000137200	Chromatin interaction
ENSG00000198937	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10807184	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10947675	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11756241	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12200378	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12202055	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12202664	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1757178	0.87[MEX][hapmap]
rs1757181	0.87[MEX][hapmap]
rs1757186	0.81[EUR][1000 genomes]
rs1757188	0.95[MEX][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs1757189	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1757191	0.82[EUR][1000 genomes]
rs1776454	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1776455	0.95[MEX][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs1874736	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2270687	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2776870	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2776872	0.82[EUR][1000 genomes]
rs2776874	0.82[MEX][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2797795	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2797796	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2797798	0.82[EUR][1000 genomes]
rs2797799	0.82[EUR][1000 genomes]
rs3818985	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4714066	0.81[EUR][1000 genomes]
rs4714068	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4714070	0.92[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4714071	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62406510	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62408367	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6921922	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs882322	0.81[EUR][1000 genomes]
rs904251	0.83[MEX][hapmap]
rs9349039	0.81[AMR][1000 genomes]
rs9366935	0.81[AMR][1000 genomes]
rs9369005	1.00[ASW][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9380673	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9380677	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12211110	RP1-153P14.5	cis	Whole Blood	GTEx
rs12211110	RNF8	cis	parietal	SCAN
rs12211110	C6orf129	cis	parietal	SCAN
rs12211110	RP1-153P14.8	cis	Whole Blood	GTEx
rs12211110	FTSJD2	cis	parietal	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37443600-37466600	Weak transcription	A549	lung
2	chr6:37446800-37466600	Weak transcription	Hela-S3	cervix
3	chr6:37447600-37466800	Weak transcription	HSMM	muscle
4	chr6:37448400-37466800	Weak transcription	Stomach Mucosa	stomach
5	chr6:37450200-37467200	Weak transcription	Small Intestine	intestine
6	chr6:37451600-37466800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:37451600-37467000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:37451800-37466600	Weak transcription	Primary B cells from cord blood	blood
9	chr6:37451800-37466800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:37452000-37466600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:37452000-37466800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:37452200-37466800	Weak transcription	NHLF	lung
13	chr6:37452600-37466800	Weak transcription	NHDF-Ad	bronchial
14	chr6:37452600-37466800	Weak transcription	Osteobl	bone
15	chr6:37453200-37466600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:37453400-37466800	Weak transcription	Fetal Intestine Large	intestine
17	chr6:37456400-37467000	Weak transcription	Fetal Intestine Small	intestine
18	chr6:37456600-37466800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr6:37458000-37466800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:37458200-37466800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr6:37459000-37466800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:37459400-37466600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:37459400-37466800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:37459400-37466800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:37459400-37467000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:37459600-37466600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:37459800-37466600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:37459800-37466800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:37460000-37466600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:37460000-37466600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:37460000-37466800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:37460000-37466800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr6:37460000-37467000	Weak transcription	Right Atrium	heart
34	chr6:37460400-37466600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr6:37460400-37466600	Weak transcription	Right Ventricle	heart
36	chr6:37460400-37466800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:37460600-37466600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr6:37460600-37466600	Weak transcription	Brain Anterior Caudate	brain
39	chr6:37460600-37466600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr6:37460600-37466600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:37460800-37466600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:37460800-37466800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr6:37461400-37466600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:37461400-37466600	Weak transcription	Fetal Muscle Leg	muscle
45	chr6:37461400-37466800	Weak transcription	Brain Hippocampus Middle	brain
46	chr6:37461400-37466800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr6:37461400-37466800	Weak transcription	NH-A	brain
48	chr6:37461600-37466600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:37461600-37466600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr6:37461600-37466800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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