Variant report

Variant	rs1047636
Chromosome Location	chr11:105947285-105947286
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr11:105947212-105948034	GM12878	blood:	n/a	chr11:105947248-105947268
2	KAP1	chr11:105946588-105949176	HEK293	kidney:	n/a	n/a
3	MYC	chr11:105947271-105949333	K562	blood:	n/a	chr11:105949045-105949054 chr11:105949046-105949053
4	STAT3	chr11:105947107-105947307	MCF10A-Er-Src	breast:	n/a	chr11:105947248-105947268
5	POLR2A	chr11:105947064-105949970	MCF10A-Er-Src	breast:	n/a	n/a
6	CHD2	chr11:105947060-105948769	K562	blood:	n/a	n/a
7	CHD2	chr11:105947222-105948538	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAZ	chr11:105947162-105949226	IMR90	lung:	n/a	chr11:105949045-105949054 chr11:105949046-105949053
9	POLR2A	chr11:105947024-105949403	PBDE	blood:	n/a	n/a
10	FOXA1	chr11:105947216-105947888	HepG2	liver:	n/a	n/a
11	KAP1	chr11:105947081-105948207	U2OS	brain:	n/a	n/a
12	POLR2A	chr11:105946851-105949399	GM18505	blood:	n/a	n/a
13	MTA3	chr11:105947228-105948237	GM12878	blood:	n/a	n/a
14	TAF1	chr11:105946913-105948999	H1-neurons	neurons:	n/a	n/a
15	ELK1	chr11:105947103-105947994	GM12878	blood:	n/a	n/a
16	IRF1	chr11:105947257-105948542	K562	blood:	n/a	chr11:105948246-105948260 chr11:105948169-105948183 chr11:105948370-105948384
17	TAF1	chr11:105947194-105948977	H1-hESC	embryonic stem cell:	n/a	n/a
18	RCOR1	chr11:105947247-105949180	K562	blood:	n/a	n/a
19	BRCA1	chr11:105947071-105948125	GM12878	blood:	n/a	chr11:105947510-105947517
20	POLR2A	chr11:105947278-105948851	GM15510	blood:	n/a	n/a
21	TBL1XR1	chr11:105947245-105948677	GM12878	blood:	n/a	n/a
22	REST	chr11:105946617-105949480	H1-neurons	neurons:	n/a	chr11:105947620-105947630 chr11:105946996-105947009 chr11:105948754-105948764
23	POLR2A	chr11:105947208-105949184	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:105947273-105949028	GM19193	blood:	n/a	n/a
25	POLR2A	chr11:105947238-105949187	GM18951	blood:	n/a	n/a
26	FOXA1	chr11:105947226-105947804	T-47D	breast:	n/a	n/a
27	STAT3	chr11:105947171-105947424	MCF10A-Er-Src	breast:	n/a	chr11:105947248-105947268
28	POLR2A	chr11:105947228-105949203	H1-neurons	neurons:	n/a	n/a
29	MXI1	chr11:105947233-105949219	HepG2	liver:	n/a	n/a
30	WRNIP1	chr11:105947037-105949122	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:105946817-105949375	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr11:105946882-105949264	GM12891	blood:	n/a	n/a
33	FOXA1	chr11:105947233-105947827	T-47D	breast:	n/a	n/a
34	POLR2A	chr11:105947186-105948875	SK-N-SH	brain:	n/a	n/a
35	STAT5A	chr11:105947266-105948165	GM12878	blood:	n/a	n/a
36	MAZ	chr11:105947264-105949291	K562	blood:	n/a	chr11:105949045-105949054 chr11:105949046-105949053
37	GATA2	chr11:105947106-105949179	SH-SY5Y	brain:	n/a	chr11:105947156-105947177
38	ATF2	chr11:105947165-105948688	GM12878	blood:	n/a	n/a
39	MXI1	chr11:105946719-105950590	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr11:105947174-105949249	Raji	blood:	n/a	n/a
41	POLR2A	chr11:105947151-105948958	H1-hESC	embryonic stem cell:	n/a	n/a
42	EP300	chr11:105947220-105949453	K562	blood:	n/a	chr11:105949255-105949269 chr11:105948348-105948364
43	ZMIZ1	chr11:105947277-105948744	K562	blood:	n/a	n/a
44	POLR2A	chr11:105947215-105949187	K562	blood:	n/a	n/a
45	POLR2A	chr11:105947198-105949212	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr11:105947137-105949163	HUVEC	blood vessel:	n/a	n/a
47	RELA	chr11:105947278-105948572	GM19099	blood:	n/a	n/a
48	TBL1XR1	chr11:105947262-105948523	K562	blood:	n/a	n/a
49	CHD1	chr11:105947277-105949438	IMR90	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:105947257-105947307	HCM	heart:	n/a
2	chr11:105947257-105947307	HEK293	kidney:	embryo
3	chr11:105947257-105947307	HAEpiC	amniotic membrane:	n/a
4	chr11:105947257-105947307	SK-N-SH_RA	brain:	n/a
5	chr11:105947257-105947307	HPAEpiC	pulmonary alveolar:	n/a
6	chr11:105947257-105947307	Hepatocyte	liver:	n/a
7	chr11:105947257-105947307	HCPEpiC	choroid plexus:	n/a
8	chr11:105947257-105947307	GM19239	blood:	n/a
9	chr11:105947257-105947307	HMEC	breast:	n/a
10	chr11:105947257-105947307	SK-N-SH	brain:	n/a
11	chr11:105947257-105947307	HCF	heart:	n/a
12	chr11:105947257-105947307	HRCEpiC	kidney:	n/a
13	chr11:105947257-105947307	RPTEC	kidney:	n/a
14	chr11:105947257-105947307	IMR90	lung:	fetal
15	chr11:105947257-105947307	PrEC	prostate:	n/a
16	chr11:105947257-105947307	NHBE	bronchial:	n/a
17	chr11:105947257-105947307	HL-60	blood:	n/a
18	chr11:105947257-105947307	PFSK-1	brain:	n/a
19	chr11:105947257-105947307	T-47D	breast:	n/a
20	chr11:105947257-105947307	NT2-D1	testis:	n/a
21	chr11:105947257-105947307	Caco-2	colon:	n/a
22	chr11:105947257-105947307	HCT-116	colon:	n/a
23	chr11:105947257-105947307	PANC-1	pancreas:	n/a
24	chr11:105947257-105947307	ovcar-3	ovarian:	n/a
25	chr11:105947257-105947307	GM12891	blood:	n/a
26	chr11:105947257-105947307	AG10803	skin:	n/a
27	chr11:105947257-105947307	HIPEpiC	eye:	n/a
28	chr11:105947257-105947307	Hela-S3	cervix:	n/a
29	chr11:105947257-105947307	SKMC	muscle:	n/a
30	chr11:105947257-105947307	HRPEpiC	eye:	n/a
31	chr11:105947257-105947307	U87	brain:	n/a
32	chr11:105947257-105947307	ProgFib	skin:	n/a
33	chr11:105947257-105947307	H1-hESC	embryonic stem cell:	embryo
34	chr11:105947257-105947307	AoSMC	blood vessel:	n/a
35	chr11:105947257-105947307	HepG2	liver:	n/a
36	chr11:105947257-105947307	MCF10A-Er-Src	breast:	n/a
37	chr11:105947257-105947307	AG09309	skin:	n/a
38	chr11:105947257-105947307	SK-N-MC	brain:	n/a
39	chr11:105947257-105947307	HUVEC	blood vessel:	n/a
40	chr11:105947257-105947307	AG09319	gingival:	n/a
41	chr11:105947257-105947307	GM12892	blood:	n/a
42	chr11:105947257-105947307	SAEC	small airway:	n/a
43	chr11:105947257-105947307	NHDF-neo	bronchial:	n/a
44	chr11:105947257-105947307	GM06990	blood:	n/a
45	chr11:105947257-105947307	HEEpiC	esophagus:	n/a
46	chr11:105947257-105947307	A549	lung:	n/a
47	chr11:105947257-105947307	AG04450	lung:	fetal
48	chr11:105947257-105947307	LNCaP	prostate:	n/a
49	chr11:105947257-105947307	BE2_C	brain:	n/a
50	chr11:105947257-105947307	MCF-7	breast:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:105889494..105894632-chr11:105945234..105949346,5	K562	blood:
2	chr11:105890839..105893464-chr11:105945938..105948303,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA1826-2	chr11:105946731-105947434	NONHSAT023971
2	lnc-KIAA1826-2	chr11:105947234-105947366	NONHSAT023970

No data

Variant related genes	Relation type
AASDHPPT	TF binding region
AASDHPPT	CpG island
ENSG00000170903	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10895900	0.94[CEU][hapmap]
rs11226915	0.94[CEU][hapmap]
rs11226973	1.00[JPT][hapmap]
rs11826859	0.85[GIH][hapmap]
rs3889602	0.85[YRI][hapmap]
rs4237618	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs4440991	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs4485076	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][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	nsv1048381	chr11:105945117-106561574	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1047636	KBTBD3	cis	lymphoblastoid	seeQTL
rs1047636	AASDHPPT	Cis_1M	lymphoblastoid	RTeQTL
rs1047636	KDELC2	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105946400-105947600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:105946600-105949600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:105946600-105949600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:105946600-105949800	Active TSS	Brain Angular Gyrus	brain
5	chr11:105946600-105950200	Active TSS	K562	blood
6	chr11:105946800-105947400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:105946800-105947400	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr11:105946800-105947400	Flanking Active TSS	Liver	Liver
9	chr11:105946800-105947400	Flanking Active TSS	Fetal Brain Female	brain
10	chr11:105946800-105947400	Flanking Active TSS	NHEK	skin
11	chr11:105946800-105947600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:105946800-105947600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:105946800-105947600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr11:105946800-105947600	Flanking Active TSS	Dnd41	blood
15	chr11:105946800-105947800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:105946800-105948000	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr11:105946800-105948000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr11:105946800-105949000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:105946800-105949000	Active TSS	Fetal Kidney	kidney
20	chr11:105946800-105949200	Active TSS	Fetal Intestine Small	intestine
21	chr11:105946800-105949400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:105946800-105949600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:105946800-105949600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:105946800-105949600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:105946800-105949600	Active TSS	Fetal Intestine Large	intestine
26	chr11:105946800-105949800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:105946800-105949800	Active TSS	NHLF	lung
28	chr11:105946800-105950200	Active TSS	H1 Cell Line	embryonic stem cell
29	chr11:105946800-105950200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:105946800-105950200	Active TSS	Brain Germinal Matrix	brain
31	chr11:105947000-105947400	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr11:105947000-105947400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr11:105947000-105947400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr11:105947000-105947400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr11:105947000-105947400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr11:105947000-105947400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr11:105947000-105947400	Flanking Active TSS	Fetal Thymus	thymus
38	chr11:105947000-105947400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr11:105947000-105947400	Flanking Active TSS	A549	lung
40	chr11:105947000-105947400	Flanking Active TSS	Osteobl	bone
41	chr11:105947000-105947600	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr11:105947000-105947600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr11:105947000-105947600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr11:105947000-105947600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr11:105947000-105947600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:105947000-105947600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr11:105947000-105947600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:105947000-105947600	Flanking Active TSS	Fetal Brain Male	brain
49	chr11:105947000-105947600	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr11:105947000-105947600	Flanking Active TSS	HUVEC	blood vessel

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