Variant report

Variant	rs4929930
Chromosome Location	chr11:8719955-8719956
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr11:8719805-8719999	HepG2	liver:	n/a	n/a
2	CREB1	chr11:8719723-8720457	H1-hESC	embryonic stem cell:	n/a	n/a
3	RCOR1	chr11:8719925-8720463	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:8719687-8719992	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:8703054-8722039	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:8702980-8720607	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr11:8719782-8722199	H1-hESC	embryonic stem cell:	n/a	n/a
8	HNF4A	chr11:8719945-8720341	HepG2	liver:	n/a	chr11:8720208-8720223
9	POLR2A	chr11:8716661-8722311	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:8718535-8722277	Hela-S3	cervix:	n/a	n/a
11	FOXA2	chr11:8719942-8720208	HepG2	liver:	n/a	n/a
12	POLR2A	chr11:8718845-8719991	K562	blood:	n/a	n/a
13	ZNF263	chr11:8719815-8720246	HEK293-T-REx	kidney:	n/a	n/a
14	CEBPB	chr11:8719894-8720144	H1-hESC	embryonic stem cell:	n/a	chr11:8720084-8720101
15	POLR2A	chr11:8718876-8722220	Hela-S3	cervix:	n/a	n/a
16	EP300	chr11:8719904-8720253	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:8719332-8720210	GM12892	blood:	n/a	n/a
18	HNF4A	chr11:8719947-8720311	HepG2	liver:	n/a	chr11:8720208-8720223
19	POLR2A	chr11:8719695-8720388	GM12891	blood:	n/a	n/a
20	ATF2	chr11:8719695-8720794	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:8719729-8720490	IMR90	lung:	n/a	n/a
22	POLR2A	chr11:8719311-8720111	HepG2	liver:	n/a	n/a
23	EP300	chr11:8719892-8720377	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:8716731-8722284	K562	blood:	n/a	n/a
25	CEBPB	chr11:8719943-8720252	HepG2	liver:	n/a	chr11:8720084-8720101
26	POLR2A	chr11:8719809-8720705	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:8719509-8720533	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr11:8719803-8720294	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr11:8719697-8720021	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr11:8718605-8722100	A549	lung:	n/a	n/a
31	POLR2A	chr11:8703113-8722297	HepG2	liver:	n/a	n/a
32	TEAD4	chr11:8719922-8720382	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8709503..8714356-chr11:8719036..8721571,6	MCF-7	breast:
2	chr11:8719120..8722068-chr11:8726916..8729011,2	MCF-7	breast:
3	chr11:8717868..8722426-chr11:8832973..8835335,4	K562	blood:
4	chr11:8719301..8720930-chr11:8796904..8798885,2	K562	blood:
5	chr11:8708063..8712072-chr11:8719395..8721853,4	MCF-7	breast:

No data

Variant related genes	Relation type
ST5	TF binding region
ENSG00000166444	Chromatin interaction
ENSG00000166441	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10840111	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11042036	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs11042038	0.90[EUR][1000 genomes]
rs2073685	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2073686	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2270958	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35330493	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35957960	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6735	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67701052	0.92[EUR][1000 genomes]
rs7945657	0.92[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4929930	MGC10850	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8710800-8721200	Weak transcription	Small Intestine	intestine
2	chr11:8711000-8720000	Weak transcription	Stomach Mucosa	stomach
3	chr11:8711400-8720400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:8711400-8721000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr11:8711600-8720200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:8711600-8720400	Strong transcription	Fetal Muscle Leg	muscle
7	chr11:8711600-8720800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:8711600-8721400	Weak transcription	Primary B cells from cord blood	blood
9	chr11:8711800-8720200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:8711800-8720400	Strong transcription	NH-A	brain
11	chr11:8711800-8720600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:8711800-8720800	Strong transcription	HSMM	muscle
13	chr11:8711800-8721200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:8711800-8721200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:8711800-8721200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:8711800-8722200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:8711800-8724200	Weak transcription	Thymus	Thymus
18	chr11:8712000-8720200	Strong transcription	Fetal Muscle Trunk	muscle
19	chr11:8712000-8720600	Strong transcription	HSMMtube	muscle
20	chr11:8712000-8721200	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:8712200-8721000	Strong transcription	Stomach Smooth Muscle	stomach
22	chr11:8712200-8721200	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:8712200-8721400	Weak transcription	Dnd41	blood
24	chr11:8712600-8721000	Strong transcription	Fetal Thymus	thymus
25	chr11:8712800-8720200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:8712800-8721600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr11:8712800-8721800	Strong transcription	Fetal Stomach	stomach
28	chr11:8713000-8720200	Strong transcription	Fetal Intestine Large	intestine
29	chr11:8713000-8720400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:8713000-8720400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:8713000-8720400	Strong transcription	Spleen	Spleen
32	chr11:8713000-8720800	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr11:8713000-8721000	Strong transcription	Colon Smooth Muscle	Colon
34	chr11:8713000-8721000	Strong transcription	Placenta	Placenta
35	chr11:8713000-8721600	Strong transcription	Fetal Lung	lung
36	chr11:8713000-8722000	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr11:8713200-8720200	Strong transcription	Gastric	stomach
38	chr11:8713200-8720400	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr11:8713200-8721200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr11:8713200-8721400	Strong transcription	Right Ventricle	heart
41	chr11:8713200-8730000	Strong transcription	Liver	Liver
42	chr11:8713400-8720600	Strong transcription	Brain Anterior Caudate	brain
43	chr11:8713600-8720400	Strong transcription	Left Ventricle	heart
44	chr11:8713600-8723400	Strong transcription	Esophagus	oesophagus
45	chr11:8713800-8721000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:8713800-8721000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:8714000-8720200	Strong transcription	Brain Cingulate Gyrus	brain
48	chr11:8714000-8721000	Strong transcription	Lung	lung
49	chr11:8714000-8721200	Strong transcription	Ovary	ovary
50	chr11:8714000-8722000	Strong transcription	Aorta	Aorta

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