Variant report

Variant	rs10219430
Chromosome Location	chr11:104839997-104839998
allele	A/G
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:0)
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	TBP	chr11:104839106-104840551	HepG2	liver:	n/a	n/a
2	MXI1	chr11:104839792-104840554	HepG2	liver:	n/a	n/a
3	HDAC2	chr11:104839961-104840204	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAFK	chr11:104839223-104840096	HepG2	liver:	n/a	chr11:104839410-104839426
5	YY1	chr11:104839737-104840075	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:104839693-104840294	Gliobla	brain:	n/a	n/a
7	RAD21	chr11:104839823-104840529	HepG2	liver:	n/a	n/a
8	MAZ	chr11:104839830-104840089	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:104838965-104840618	HepG2	liver:	n/a	n/a
10	YY1	chr11:104839712-104840107	HepG2	liver:	n/a	n/a
11	POLR2A	chr11:104839697-104840550	HepG2	liver:	n/a	n/a
12	RAD21	chr11:104839830-104840368	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF1	chr11:104839701-104840500	HepG2	liver:	n/a	n/a
14	RAD21	chr11:104839968-104840311	H1-hESC	embryonic stem cell:	n/a	n/a
15	TEAD4	chr11:104839903-104840381	H1-hESC	embryonic stem cell:	n/a	n/a
16	TEAD4	chr11:104839872-104840344	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:104839658-104840017	HepG2	liver:	n/a	n/a
18	CTCF	chr11:104839960-104840110	HepG2	liver:	n/a	n/a
19	MAFF	chr11:104839117-104840103	HepG2	liver:	n/a	n/a
20	MAFK	chr11:104839156-104840093	IMR90	lung:	n/a	chr11:104839410-104839426
21	YY1	chr11:104839677-104840073	HepG2	liver:	n/a	n/a
22	RAD21	chr11:104839972-104840317	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr11:104837254-104840012	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr11:104839975-104840101	HepG2	liver:	n/a	n/a
25	MAFK	chr11:104839894-104840041	HepG2	liver:	n/a	n/a
26	HEY1	chr11:104839034-104840602	HepG2	liver:	n/a	n/a
27	POLR2A	chr11:104839605-104840593	HepG2	liver:	n/a	n/a
28	POLR2A	chr11:104839756-104840497	HepG2	liver:	n/a	n/a
29	POLR2A	chr11:104838348-104840057	HUVEC	blood vessel:	n/a	n/a
30	CTCF	chr11:104839982-104840267	H1-hESC	embryonic stem cell:	n/a	n/a
31	YY1	chr11:104839786-104840032	H1-hESC	embryonic stem cell:	n/a	n/a
32	HEY1	chr11:104839701-104840536	HepG2	liver:	n/a	n/a

No data

Variant related genes	Relation type
CASP4	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11226570	1.00[AMR][1000 genomes]
rs11226571	1.00[AMR][1000 genomes]
rs11826709	1.00[AMR][1000 genomes]
rs11826730	1.00[AMR][1000 genomes]
rs12146596	1.00[AMR][1000 genomes]
rs12270162	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
2	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv832255	chr11:104674918-104846961	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv898355	chr11:104730322-104897843	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1040784	chr11:104763797-104855878	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv468862	chr11:104774014-105243371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv556218	chr11:104774014-105243371	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	esv3385159	chr11:104786549-105051555	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv1041081	chr11:104797775-104912458	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv1044970	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv541160	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription 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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104836600-104840400	Active TSS	Rectal Smooth Muscle	rectum
2	chr11:104836800-104840200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:104837000-104840000	Active TSS	Right Ventricle	heart
4	chr11:104837000-104840600	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr11:104837200-104840200	Active TSS	Psoas Muscle	Psoas
6	chr11:104837400-104840400	Active TSS	Right Atrium	heart
7	chr11:104837400-104840600	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr11:104837600-104840000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:104837600-104840000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:104837600-104840000	Active TSS	Placenta	Placenta
11	chr11:104837600-104840000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:104837800-104840000	Active TSS	Brain Hippocampus Middle	brain
13	chr11:104837800-104840200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:104837800-104840200	Active TSS	Brain Anterior Caudate	brain
15	chr11:104837800-104840200	Active TSS	Ovary	ovary
16	chr11:104838000-104840200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:104838000-104840400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:104838000-104840600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr11:104838200-104840000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr11:104838200-104840000	Active TSS	Fetal Kidney	kidney
21	chr11:104838200-104840200	Active TSS	Aorta	Aorta
22	chr11:104838200-104840200	Active TSS	Left Ventricle	heart
23	chr11:104838200-104840400	Active TSS	HSMM	muscle
24	chr11:104838200-104840400	Active TSS	Osteobl	bone
25	chr11:104838200-104840600	Active TSS	Stomach Smooth Muscle	stomach
26	chr11:104838400-104840000	Active TSS	Brain Cingulate Gyrus	brain
27	chr11:104838400-104840000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:104838400-104840000	Active TSS	Esophagus	oesophagus
29	chr11:104838400-104840000	Active TSS	Pancreas	Pancrea
30	chr11:104838400-104840400	Active TSS	Colon Smooth Muscle	Colon
31	chr11:104838600-104840000	Active TSS	Brain Angular Gyrus	brain
32	chr11:104838800-104840200	Active TSS	HSMMtube	muscle
33	chr11:104839200-104840200	Bivalent/Poised TSS	HepG2	liver
34	chr11:104839200-104840400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr11:104839200-104840600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:104839400-104840000	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr11:104839400-104840000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr11:104839400-104840000	Flanking Active TSS	Hela-S3	cervix
39	chr11:104839400-104840200	Active TSS	Primary T cells from cord blood	blood
40	chr11:104839400-104840200	Flanking Active TSS	Dnd41	blood
41	chr11:104839400-104840400	Flanking Active TSS	Liver	Liver
42	chr11:104839600-104840000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:104839600-104840000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr11:104839600-104840000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr11:104839600-104840000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:104839600-104840000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr11:104839600-104840000	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr11:104839600-104840000	Enhancers	Small Intestine	intestine
49	chr11:104839600-104840000	Enhancers	Spleen	Spleen
50	chr11:104839600-104840000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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