Variant report

Variant	rs1139266
Chromosome Location	chr11:45832935-45832936
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:45832911-45832961	GM12878	blood:	n/a
2	chr11:45832911-45832961	NT2-D1	testis:	n/a
3	chr11:45832911-45832961	IMR90	lung:	fetal
4	chr11:45832911-45832961	CMK	blood:	n/a
5	chr11:45832911-45832961	AoSMC	blood vessel:	n/a
6	chr11:45832911-45832961	AG10803	skin:	n/a
7	chr11:45832911-45832961	PANC-1	pancreas:	n/a
8	chr11:45832911-45832961	HCT-116	colon:	n/a
9	chr11:45832911-45832961	H1-hESC	embryonic stem cell:	embryo
10	chr11:45832911-45832961	ECC-1	luminal epithelium:	n/a
11	chr11:45832911-45832961	HRE	kidney:	n/a
12	chr11:45832911-45832961	GM06990	blood:	n/a
13	chr11:45832911-45832961	HAEpiC	amniotic membrane:	n/a
14	chr11:45832911-45832961	HIPEpiC	eye:	n/a
15	chr11:45832911-45832961	MCF10A-Er-Src	breast:	n/a
16	chr11:45832911-45832961	SAEC	small airway:	n/a
17	chr11:45832911-45832961	HNPCEpiC	eye:	n/a
18	chr11:45832911-45832961	SK-N-SH_RA	brain:	n/a
19	chr11:45832911-45832961	HUVEC	blood vessel:	n/a
20	chr11:45832911-45832961	RPTEC	kidney:	n/a
21	chr11:45832911-45832961	NB4	blood:	n/a
22	chr11:45832911-45832961	HEK293	kidney:	embryo
23	chr11:45832911-45832961	SK-N-SH	brain:	n/a
24	chr11:45832911-45832961	BE2_C	brain:	n/a
25	chr11:45832911-45832961	K562	blood:	n/a
26	chr11:45832911-45832961	HRPEpiC	eye:	n/a
27	chr11:45832911-45832961	PFSK-1	brain:	n/a
28	chr11:45832911-45832961	Caco-2	colon:	n/a
29	chr11:45832911-45832961	MCF-7	breast:	n/a
30	chr11:45832911-45832961	HepG2	liver:	n/a
31	chr11:45832911-45832961	ProgFib	skin:	n/a
32	chr11:45832911-45832961	HCF	heart:	n/a
33	chr11:45832911-45832961	U87	brain:	n/a
34	chr11:45832911-45832961	PrEC	prostate:	n/a
35	chr11:45832911-45832961	SK-N-MC	brain:	n/a
36	chr11:45832911-45832961	HPAEpiC	pulmonary alveolar:	n/a
37	chr11:45832911-45832961	AG04450	lung:	fetal
38	chr11:45832911-45832961	Hepatocyte	liver:	n/a
39	chr11:45832911-45832961	NHDF-neo	bronchial:	n/a
40	chr11:45832911-45832961	GM12891	blood:	n/a
41	chr11:45832911-45832961	HEEpiC	esophagus:	n/a
42	chr11:45832911-45832961	AG09309	skin:	n/a
43	chr11:45832911-45832961	AG04449	skin:	fetal
44	chr11:45832911-45832961	BJ	skin:	n/a
45	chr11:45832911-45832961	NHBE	bronchial:	n/a
46	chr11:45832911-45832961	A549	lung:	n/a
47	chr11:45832911-45832961	HL-60	blood:	n/a
48	chr11:45832911-45832961	LNCaP	prostate:	n/a
49	chr11:45832911-45832961	HRCEpiC	kidney:	n/a
50	chr11:45832911-45832961	Hela-S3	cervix:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45832189..45833929-chr11:45868035..45870622,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255447	CpG island
ENSG00000121671	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10838521	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs2090602	0.94[JPT][hapmap]
rs2292912	0.84[JPT][hapmap]
rs3824872	0.84[JPT][hapmap];0.84[TSI][hapmap]
rs7108730	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7943306	0.85[CHD][hapmap];0.83[GIH][hapmap]
rs7951225	0.85[JPT][hapmap];0.83[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv897315	chr11:45817637-45838926	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1139266	ENSG00000181830	cis	multi-tissue	Pritchard
rs1139266	SLC35C1	cis	lymphoblastoid	seeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45828000-45833600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:45828000-45834200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:45828000-45837200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr11:45828000-45837200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:45828200-45833000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:45828400-45833200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:45828600-45834000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:45829200-45833000	Strong transcription	A549	lung
9	chr11:45829200-45835000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:45829400-45833000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:45829400-45833600	Weak transcription	NHDF-Ad	bronchial
12	chr11:45829600-45833400	Genic enhancers	Adipose Nuclei	Adipose
13	chr11:45829600-45834000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:45829600-45834400	Strong transcription	Esophagus	oesophagus
15	chr11:45829600-45834400	Strong transcription	NHLF	lung
16	chr11:45829600-45834800	Strong transcription	Primary T cells from cord blood	blood
17	chr11:45829600-45834800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:45829600-45834800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:45829600-45835000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:45829600-45835200	Strong transcription	Fetal Stomach	stomach
21	chr11:45829600-45835800	Weak transcription	HSMM	muscle
22	chr11:45829600-45836000	Weak transcription	HepG2	liver
23	chr11:45829800-45833600	Strong transcription	Right Ventricle	heart
24	chr11:45829800-45833600	Weak transcription	Stomach Mucosa	stomach
25	chr11:45829800-45834400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:45829800-45834600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr11:45829800-45835400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:45830000-45834400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:45830000-45834400	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr11:45830000-45834600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:45830000-45834600	Weak transcription	Small Intestine	intestine
32	chr11:45830200-45834000	Strong transcription	Fetal Intestine Large	intestine
33	chr11:45830200-45834400	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:45830200-45834800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:45830200-45835000	Strong transcription	Fetal Intestine Small	intestine
36	chr11:45830400-45833000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:45830400-45833000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr11:45830400-45833800	Strong transcription	Osteobl	bone
39	chr11:45830400-45834200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:45830400-45834400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:45830600-45833400	Strong transcription	Brain Substantia Nigra	brain
42	chr11:45830600-45833600	Strong transcription	Brain Cingulate Gyrus	brain
43	chr11:45830600-45833800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:45830600-45833800	Strong transcription	Primary B cells from cord blood	blood
45	chr11:45830600-45833800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:45830600-45833800	Strong transcription	Ovary	ovary
47	chr11:45830600-45834000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:45830600-45834200	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr11:45830600-45834400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:45830800-45833600	Strong transcription	HUVEC	blood vessel

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