Variant report

Variant	rs17135049
Chromosome Location	chr11:76339647-76339648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr11:76339513-76339814	GM12878	blood:	n/a	n/a
2	ZNF143	chr11:76339567-76339919	GM12878	blood:	n/a	n/a
3	EP300	chr11:76339560-76339718	GM12878	blood:	n/a	n/a
4	STAT5A	chr11:76339408-76339744	GM12878	blood:	n/a	n/a
5	CTCF	chr11:76339580-76339730	GM12874	blood:	n/a	n/a
6	TBL1XR1	chr11:76339407-76339858	GM12878	blood:	n/a	n/a
7	ELF1	chr11:76339298-76340034	GM12878	blood:	n/a	n/a
8	EBF1	chr11:76339408-76339810	GM12878	blood:	n/a	n/a
9	EP300	chr11:76339407-76339804	GM12878	blood:	n/a	chr11:76339459-76339475
10	PML	chr11:76339355-76339908	GM12878	blood:	n/a	n/a
11	BHLHE40	chr11:76337688-76339815	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:76339446-76342097	HUVEC	blood vessel:	n/a	n/a
13	FOXM1	chr11:76339439-76339971	GM12878	blood:	n/a	n/a
14	RUNX3	chr11:76339273-76339958	GM12878	blood:	n/a	n/a
15	CHD1	chr11:76339526-76339861	GM12878	blood:	n/a	n/a
16	MAZ	chr11:76339486-76339959	GM12878	blood:	n/a	n/a
17	EP300	chr11:76339385-76339842	GM12878	blood:	n/a	chr11:76339459-76339475
18	CEBPB	chr11:76339328-76339867	GM12878	blood:	n/a	n/a
19	EBF1	chr11:76339438-76339804	GM12878	blood:	n/a	n/a
20	RUNX3	chr11:76339362-76339930	GM12878	blood:	n/a	n/a
21	BCL3	chr11:76339453-76339841	GM12878	blood:	n/a	n/a
22	NFATC1	chr11:76339327-76339987	GM12878	blood:	n/a	n/a
23	EGR1	chr11:76339457-76339754	GM12878	blood:	n/a	chr11:76339587-76339600 chr11:76339587-76339601 chr11:76339586-76339601 chr11:76339589-76339599 chr11:76339589-76339599 chr11:76339587-76339600 chr11:76339588-76339599 chr11:76339588-76339599 chr11:76339588-76339602
24	NFIC	chr11:76339301-76340020	GM12878	blood:	n/a	chr11:76339335-76339352 chr11:76339335-76339351
25	MTA3	chr11:76339188-76339824	GM12878	blood:	n/a	n/a
26	ZEB1	chr11:76339224-76339858	GM12878	blood:	n/a	chr11:76339560-76339569

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76337563..76340451-chr11:76340690..76342431,2	MCF-7	breast:
2	chr11:76338138..76339963-chr11:76341531..76343151,2	K562	blood:

Variant related genes	Relation type
ENSG00000255479	TF binding region
ENSG00000255363	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11236840	1.00[EUR][1000 genomes]
rs56288835	0.92[EUR][1000 genomes]
rs58950823	0.92[EUR][1000 genomes]
rs6592654	1.00[EUR][1000 genomes]
rs6592655	1.00[EUR][1000 genomes]
rs7929765	1.00[EUR][1000 genomes]
rs7929996	1.00[EUR][1000 genomes]
rs7930476	1.00[EUR][1000 genomes]
rs7935413	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043912	chr11:76301316-76439095	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1039451	chr11:76301316-76440221	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1810781	chr11:76311021-76464814	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76328600-76340400	Weak transcription	Right Atrium	heart
2	chr11:76332000-76340400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:76333400-76340200	Weak transcription	Ovary	ovary
4	chr11:76334000-76341000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:76334200-76340400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:76335200-76340000	Weak transcription	NHLF	lung
7	chr11:76335400-76340000	Weak transcription	HUVEC	blood vessel
8	chr11:76335600-76340000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:76336600-76340600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:76336600-76341200	Weak transcription	K562	blood
11	chr11:76337200-76340200	Weak transcription	Right Ventricle	heart
12	chr11:76337200-76342200	Enhancers	Primary B cells from cord blood	blood
13	chr11:76337400-76341800	Enhancers	Spleen	Spleen
14	chr11:76337400-76342000	Enhancers	Primary B cells from peripheral blood	blood
15	chr11:76337600-76340800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr11:76337600-76341000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr11:76337600-76341600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr11:76337600-76342000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:76337600-76342600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr11:76337800-76339800	Weak transcription	Fetal Stomach	stomach
21	chr11:76337800-76340400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:76337800-76342000	Enhancers	Fetal Thymus	thymus
23	chr11:76337800-76342200	Enhancers	Placenta	Placenta
24	chr11:76338000-76340400	Enhancers	Adipose Nuclei	Adipose
25	chr11:76338000-76341200	Enhancers	GM12878-XiMat	blood
26	chr11:76338200-76340800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr11:76338200-76341000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:76338200-76341200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr11:76338400-76340200	Weak transcription	NHDF-Ad	bronchial
30	chr11:76338400-76340400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:76338400-76340400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:76338400-76340400	Weak transcription	NH-A	brain
33	chr11:76338400-76341000	Weak transcription	Aorta	Aorta
34	chr11:76338600-76340800	Weak transcription	Osteobl	bone
35	chr11:76338600-76341600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:76338800-76339800	Weak transcription	Fetal Muscle Leg	muscle
37	chr11:76338800-76341200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:76338800-76341200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr11:76338800-76341600	Enhancers	Lung	lung
40	chr11:76339000-76340200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr11:76339000-76340200	Weak transcription	Esophagus	oesophagus
42	chr11:76339000-76340400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:76339000-76340400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:76339000-76340800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr11:76339200-76340200	Weak transcription	Primary T cells from cord blood	blood
46	chr11:76339200-76340200	Weak transcription	Fetal Heart	heart
47	chr11:76339400-76342000	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr11:76339400-76342600	Enhancers	Left Ventricle	heart
49	chr11:76339600-76339800	Enhancers	Fetal Muscle Trunk	muscle
50	chr11:76339600-76342600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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