Variant report

Variant	rs73506207
Chromosome Location	chr11:68352817-68352818
allele	A/G
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	chr11:68352803-68352872	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr11:68352669-68352958	K562	blood:	n/a	n/a
3	POLR2A	chr11:68352510-68352864	K562	blood:	n/a	n/a
4	MAFK	chr11:68352611-68352949	HepG2	liver:	n/a	chr11:68352769-68352779 chr11:68352768-68352783 chr11:68352770-68352779 chr11:68352766-68352780
5	MAFK	chr11:68352719-68352918	Hela-S3	cervix:	n/a	chr11:68352769-68352779 chr11:68352768-68352783 chr11:68352770-68352779 chr11:68352766-68352780
6	MAFK	chr11:68352625-68352942	IMR90	lung:	n/a	chr11:68352769-68352779 chr11:68352768-68352783 chr11:68352770-68352779 chr11:68352766-68352780
7	POLR2A	chr11:68352471-68352924	K562	blood:	n/a	n/a
8	MAFK	chr11:68352720-68352838	H1-hESC	embryonic stem cell:	n/a	chr11:68352769-68352779 chr11:68352768-68352783 chr11:68352770-68352779 chr11:68352766-68352780
9	POLR2A	chr11:68352751-68352914	GM12878	blood:	n/a	n/a
10	MAFK	chr11:68352608-68352952	HepG2	liver:	n/a	chr11:68352769-68352779 chr11:68352768-68352783 chr11:68352770-68352779 chr11:68352766-68352780
11	MAFF	chr11:68352607-68352892	K562	blood:	n/a	chr11:68352767-68352785
12	POLR2A	chr11:68352694-68352839	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAFF	chr11:68352588-68352942	HepG2	liver:	n/a	chr11:68352767-68352785
14	BACH1	chr11:68352694-68352894	H1-hESC	embryonic stem cell:	n/a	chr11:68352766-68352780

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:68226755..68229089-chr11:68350474..68353083,2	K562	blood:
2	chr11:68226828..68228925-chr11:68351073..68354033,2	MCF-7	breast:

Variant related genes	Relation type
PPP6R3	TF binding region
ENSG00000110075	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs2510394	1.00[AMR][1000 genomes]
rs58494027	1.00[AMR][1000 genomes]
rs59010692	1.00[AMR][1000 genomes]
rs61218296	1.00[AMR][1000 genomes]
rs61387988	1.00[AMR][1000 genomes]
rs61598913	1.00[AMR][1000 genomes]
rs73504456	1.00[AMR][1000 genomes]
rs73504461	1.00[AMR][1000 genomes]
rs73504486	1.00[AMR][1000 genomes]
rs73504492	1.00[AMR][1000 genomes]
rs73506270	1.00[AMR][1000 genomes]
rs73506289	1.00[AMR][1000 genomes]
rs73506296	1.00[AMR][1000 genomes]
rs73508108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508114	1.00[AMR][1000 genomes]
rs73516848	1.00[AMR][1000 genomes]
rs73516850	1.00[AMR][1000 genomes]
rs73516855	1.00[AMR][1000 genomes]
rs73516856	1.00[AMR][1000 genomes]
rs73516865	1.00[AMR][1000 genomes]
rs73516880	1.00[AMR][1000 genomes]
rs73516894	1.00[AMR][1000 genomes]
rs73516899	1.00[AMR][1000 genomes]
rs73518803	1.00[AMR][1000 genomes]
rs73521406	1.00[AMR][1000 genomes]
rs73521422	1.00[AMR][1000 genomes]
rs73521428	1.00[AMR][1000 genomes]
rs73521433	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431317	chr11:68282676-68411867	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3478641	chr11:68282679-68411856	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv3478652	chr11:68282679-68411856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3425206	chr11:68282708-68411817	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer 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	esv3511614	chr11:68282726-68411806	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv3511615	chr11:68282726-68411806	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv3348204	chr11:68282891-68411839	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS 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
8	nsv832195	chr11:68286383-68474611	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv430403	chr11:68297201-68448324	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68283000-68358200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:68299200-68384000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:68304000-68384400	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr11:68309400-68384800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:68313400-68356200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:68317000-68384200	Strong transcription	Fetal Muscle Trunk	muscle
7	chr11:68317600-68383600	Strong transcription	Placenta	Placenta
8	chr11:68318000-68383800	Strong transcription	Fetal Thymus	thymus
9	chr11:68318000-68384000	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr11:68318200-68384200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:68318600-68384600	Strong transcription	Primary B cells from cord blood	blood
12	chr11:68319200-68384200	Strong transcription	Duodenum Mucosa	Duodenum
13	chr11:68319800-68384000	Strong transcription	Liver	Liver
14	chr11:68321000-68361800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:68324400-68362000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:68324600-68361600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:68325600-68361200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:68328800-68362000	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:68328800-68380600	Strong transcription	Fetal Muscle Leg	muscle
20	chr11:68329200-68384400	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr11:68330200-68355600	Strong transcription	HepG2	liver
22	chr11:68333800-68384000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr11:68333800-68384400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr11:68336800-68383800	Strong transcription	Dnd41	blood
25	chr11:68337000-68384000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:68337200-68360600	Strong transcription	Primary T cells from cord blood	blood
27	chr11:68337200-68381000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:68337200-68384000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:68337400-68361800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr11:68337400-68383400	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr11:68337400-68383800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr11:68337600-68384600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:68337800-68361600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:68338800-68360600	Strong transcription	Thymus	Thymus
35	chr11:68341800-68383400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:68342200-68385800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr11:68347000-68360200	Strong transcription	Fetal Stomach	stomach
38	chr11:68347400-68360200	Strong transcription	Fetal Intestine Small	intestine
39	chr11:68347600-68358600	Weak transcription	Fetal Brain Male	brain
40	chr11:68347800-68354000	Weak transcription	Fetal Kidney	kidney
41	chr11:68347800-68356800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:68347800-68374800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:68348000-68354600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:68348000-68358200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:68348600-68355800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:68348600-68356000	Strong transcription	Fetal Lung	lung
47	chr11:68349400-68353000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:68349400-68353800	Weak transcription	Brain Angular Gyrus	brain
49	chr11:68349400-68353800	Weak transcription	Brain Hippocampus Middle	brain
50	chr11:68349400-68353800	Weak transcription	Brain Inferior Temporal Lobe	brain

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