Variant report

Variant	rs11606717
Chromosome Location	chr11:76380737-76380738
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	POLR2A	chr11:76380577-76382544	HUVEC	blood vessel:	n/a	n/a
2	MXI1	chr11:76380554-76381744	IMR90	lung:	n/a	n/a
3	POLR2A	chr11:76377186-76382545	HUVEC	blood vessel:	n/a	n/a
4	MAZ	chr11:76380468-76382532	IMR90	lung:	n/a	chr11:76381092-76381108 chr11:76381299-76381308 chr11:76381166-76381175

No.	Distal block	Cell Line	Cell type
1	chr11:76380390..76383779-chr11:76386028..76388503,4	K562	blood:
2	chr11:76378581..76382468-chr11:76384470..76388855,6	K562	blood:
3	chr11:76374882..76378954-chr11:76379483..76384269,6	K562	blood:

Variant related genes	Relation type
LRRC32	TF binding region
ENSG00000254975	Chromatin interaction
ENSG00000137507	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10899251	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11236851	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7342189	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs947998	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv555448	chr11:76354115-76383806	Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1047069	chr11:76367686-76420813	Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76366400-76381000	Weak transcription	Small Intestine	intestine
2	chr11:76375200-76381200	Enhancers	Primary B cells from cord blood	blood
3	chr11:76376600-76381000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:76376800-76381000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:76377200-76381400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:76377200-76381800	Active TSS	Lung	lung
7	chr11:76377200-76382400	Active TSS	Right Ventricle	heart
8	chr11:76377400-76380800	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:76377400-76382200	Active TSS	Left Ventricle	heart
10	chr11:76377600-76381600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr11:76378000-76381200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:76378000-76382200	Active TSS	Brain Substantia Nigra	brain
13	chr11:76378200-76381000	Active TSS	Psoas Muscle	Psoas
14	chr11:76378200-76381600	Active TSS	Fetal Kidney	kidney
15	chr11:76378400-76382200	Active TSS	Pancreas	Pancrea
16	chr11:76378600-76380800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr11:76378600-76381000	Flanking Active TSS	Osteobl	bone
18	chr11:76378600-76381400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr11:76379000-76380800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:76379000-76381000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
21	chr11:76379000-76381000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
22	chr11:76379200-76380800	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr11:76379200-76381800	Flanking Active TSS	HUVEC	blood vessel
24	chr11:76379400-76380800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
25	chr11:76379400-76382400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
26	chr11:76379400-76382400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
27	chr11:76379600-76381000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:76379600-76381200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
29	chr11:76379600-76381400	Flanking Active TSS	NHDF-Ad	bronchial
30	chr11:76379800-76380800	Bivalent/Poised TSS	Colonic Mucosa	Colon
31	chr11:76379800-76380800	Bivalent Enhancer	Placenta	Placenta
32	chr11:76379800-76381200	Active TSS	Esophagus	oesophagus
33	chr11:76379800-76381600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
34	chr11:76380000-76381600	Active TSS	Liver	Liver
35	chr11:76380000-76382200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
36	chr11:76380000-76382400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:76380000-76382400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
38	chr11:76380200-76380800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
39	chr11:76380200-76380800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
40	chr11:76380200-76381000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
41	chr11:76380200-76381200	Active TSS	Gastric	stomach
42	chr11:76380200-76382200	Active TSS	Aorta	Aorta
43	chr11:76380200-76382200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
44	chr11:76380200-76382400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:76380400-76380800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:76380400-76380800	Active TSS	Ovary	ovary
47	chr11:76380400-76381000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
48	chr11:76380400-76381000	Active TSS	Spleen	Spleen
49	chr11:76380400-76381200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr11:76380400-76382200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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