Variant report

Variant	rs11894772
Chromosome Location	chr2:37433210-37433211
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:37432031-37433693	H1-hESC	embryonic stem cell:	n/a	n/a
2	NANOG	chr2:37433117-37433387	H1-hESC	embryonic stem cell:	n/a	n/a
3	TBP	chr2:37433091-37433545	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr2:37433078-37433493	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr2:37433118-37433621	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAFK	chr2:37432776-37433379	H1-hESC	embryonic stem cell:	n/a	n/a
7	TAF1	chr2:37433125-37433498	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr2:37433152-37433554	H1-hESC	embryonic stem cell:	n/a	n/a
9	YY1	chr2:37433043-37433618	H1-hESC	embryonic stem cell:	n/a	n/a
10	E2F6	chr2:37433010-37433877	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr2:37432782-37433562	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr2:37433081-37433730	GM12878	blood:	n/a	n/a
13	POLR2A	chr2:37433055-37433953	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr2:37433013-37433705	H1-hESC	embryonic stem cell:	n/a	n/a
15	GTF2F1	chr2:37432994-37433532	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD1	chr2:37432774-37433651	H1-hESC	embryonic stem cell:	n/a	n/a
17	SP1	chr2:37432993-37433497	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr2:37433154-37433577	MCF-7	breast:	n/a	n/a
19	POLR2A	chr2:37433099-37433599	K562	blood:	n/a	n/a
20	POLR2A	chr2:37433174-37433434	K562	blood:	n/a	n/a
21	ATF2	chr2:37432729-37433655	H1-hESC	embryonic stem cell:	n/a	n/a
22	MYC	chr2:37433056-37433505	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr2:37433079-37433487	A549	lung:	n/a	n/a
24	POLR2A	chr2:37433201-37433269	GM12878	blood:	n/a	n/a
25	POLR2A	chr2:37433148-37433426	HL-60	blood:	n/a	n/a
26	POLR2A	chr2:37432687-37435203	K562	blood:	n/a	n/a
27	TCF12	chr2:37433162-37433357	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr2:37433103-37433560	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr2:37433067-37433907	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr2:37432736-37433511	Hela-S3	cervix:	n/a	n/a
31	TAF1	chr2:37433075-37433566	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr2:37433146-37433429	H1-hESC	embryonic stem cell:	n/a	n/a
33	SP4	chr2:37432693-37433560	H1-hESC	embryonic stem cell:	n/a	n/a
34	ATF2	chr2:37432165-37433729	H1-hESC	embryonic stem cell:	n/a	n/a
35	E2F6	chr2:37433131-37433577	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr2:37433099-37433617	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr2:37433077-37433585	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37432901..37435417-chr2:37450449..37452931,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272054	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11895496	0.93[AFR][1000 genomes]
rs17020307	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes]
rs17020309	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs17020573	1.00[CEU][hapmap]
rs2058718	1.00[CEU][hapmap]
rs2058719	1.00[CEU][hapmap]
rs28548299	1.00[CEU][hapmap]
rs60698646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874094	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72875709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72875717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72875729	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72875740	0.93[AFR][1000 genomes]
rs72875743	0.87[AFR][1000 genomes]
rs72875745	0.87[AFR][1000 genomes]
rs72875750	0.87[AFR][1000 genomes]
rs72875751	0.87[AFR][1000 genomes]
rs72875758	0.87[AFR][1000 genomes]
rs72875760	0.87[AFR][1000 genomes]
rs7557416	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7564929	1.00[CEU][hapmap]
rs7591816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7603787	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs7606760	1.00[TSI][hapmap]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11894772	HIST1H2BE	trans	lymphoblastoid	seeQTL
rs11894772	PPP3CA	trans	lymphoblastoid	seeQTL
rs11894772	CRYM	trans	lymphoblastoid	seeQTL
rs11894772	HIST1H2AC	trans	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37424400-37446400	Weak transcription	Small Intestine	intestine
2	chr2:37425000-37444200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:37426200-37438200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:37426600-37433600	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr2:37426600-37438200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:37426600-37451400	Strong transcription	Fetal Thymus	thymus
7	chr2:37427000-37433400	Strong transcription	Placenta	Placenta
8	chr2:37427000-37434200	Strong transcription	Stomach Smooth Muscle	stomach
9	chr2:37427200-37441200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:37427400-37434200	Strong transcription	Hela-S3	cervix
11	chr2:37427400-37435600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:37427600-37434200	Strong transcription	NH-A	brain
13	chr2:37427600-37439600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:37427800-37451400	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr2:37428000-37439600	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:37429000-37449200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:37429200-37434600	Strong transcription	HSMM	muscle
18	chr2:37429400-37437400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:37429400-37449000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:37429800-37452600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:37430200-37434000	Strong transcription	Osteobl	bone
22	chr2:37430200-37438200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr2:37430400-37434800	ZNF genes & repeats	GM12878-XiMat	blood
24	chr2:37430400-37435600	ZNF genes & repeats	A549	lung
25	chr2:37430400-37436600	ZNF genes & repeats	Fetal Muscle Leg	muscle
26	chr2:37430600-37437800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:37430800-37433800	Strong transcription	Gastric	stomach
28	chr2:37430800-37434000	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr2:37430800-37434000	Strong transcription	Thymus	Thymus
30	chr2:37430800-37437200	ZNF genes & repeats	Fetal Intestine Large	intestine
31	chr2:37430800-37437800	ZNF genes & repeats	Brain Germinal Matrix	brain
32	chr2:37431000-37435200	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:37431200-37433800	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:37431200-37434600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr2:37431200-37434600	Strong transcription	NHDF-Ad	bronchial
36	chr2:37431200-37435000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:37431200-37435000	Strong transcription	HMEC	breast
38	chr2:37431200-37436600	Weak transcription	Fetal Heart	heart
39	chr2:37431200-37438400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr2:37431200-37438600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:37431200-37440200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr2:37431200-37441200	Strong transcription	Adipose Nuclei	Adipose
43	chr2:37431200-37442400	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr2:37431200-37450600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:37431200-37450600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:37431200-37452400	Strong transcription	Dnd41	blood
47	chr2:37431400-37433800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr2:37431400-37434000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:37431400-37434200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:37431400-37434400	Weak transcription	H9 Cell Line	embryonic stem cell

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