Variant report

Variant	rs61759803
Chromosome Location	chr11:67038022-67038023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr11:67037877-67038158	GM12878	blood:	n/a	n/a
2	MYC	chr11:67037634-67038168	NB4	blood:	n/a	n/a
3	FOXP2	chr11:67037769-67038042	SK-N-MC	brain:	n/a	n/a
4	ZNF143	chr11:67037875-67038143	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIN3AK20	chr11:67037761-67038175	H1-hESC	embryonic stem cell:	n/a	n/a
6	REST	chr11:67037672-67038692	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr11:67033773-67040167	NB4	blood:	n/a	n/a
8	RUNX3	chr11:67037809-67038140	GM12878	blood:	n/a	n/a
9	SIN3AK20	chr11:67037834-67038131	H1-hESC	embryonic stem cell:	n/a	n/a
10	MXI1	chr11:67037861-67038152	H1-hESC	embryonic stem cell:	n/a	n/a
11	REST	chr11:67037716-67038108	PFSK-1	brain:	n/a	n/a
12	FOXP2	chr11:67037771-67038114	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr11:67037432-67038241	PFSK-1	brain:	n/a	n/a
14	ATF2	chr11:67037847-67038207	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:67034482-67038045	GM12892	blood:	n/a	n/a
16	PML	chr11:67037132-67038971	GM12878	blood:	n/a	chr11:67037760-67037768
17	WRNIP1	chr11:67036895-67039166	GM12878	blood:	n/a	n/a
18	IKZF1	chr11:67037678-67039502	GM12878	blood:	n/a	n/a
19	REST	chr11:67037899-67038554	H1-neurons	neurons:	n/a	n/a
20	JUND	chr11:67037909-67038195	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:67038001-67038222	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr11:67037690-67038714	GM12892	blood:	n/a	n/a
23	POLR2A	chr11:67036738-67038616	K562	blood:	n/a	n/a
24	TCF7L2	chr11:67037876-67038522	PANC-1	pancreas:	n/a	chr11:67038174-67038181
25	POLR2A	chr11:67034324-67041514	HL-60	blood:	n/a	n/a
26	POLR2A	chr11:67033578-67041547	HL-60	blood:	n/a	n/a
27	SPI1	chr11:67037541-67038254	HL-60	blood:	n/a	chr11:67038016-67038029 chr11:67038020-67038033
28	POLR2A	chr11:67037197-67038282	HUVEC	blood vessel:	n/a	n/a
29	REST	chr11:67037601-67038253	PFSK-1	brain:	n/a	n/a
30	MAZ	chr11:67037709-67038115	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:67033515-67041155	GM12892	blood:	n/a	n/a
32	POLR2A	chr11:67037900-67038165	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr11:67037697-67038039	HUVEC	blood vessel:	n/a	n/a
34	EGR1	chr11:67037728-67038249	H1-hESC	embryonic stem cell:	n/a	n/a
35	FOXP2	chr11:67037737-67038160	SK-N-MC	brain:	n/a	n/a
36	POLR2A	chr11:67037488-67038261	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr11:67034580-67038739	GM12878	blood:	n/a	n/a
38	FOXP2	chr11:67037791-67038144	PFSK-1	brain:	n/a	n/a
39	MYC	chr11:67037862-67038069	H1-hESC	embryonic stem cell:	n/a	n/a
40	GABPA	chr11:67037699-67038167	H1-hESC	embryonic stem cell:	n/a	n/a
41	ELF1	chr11:67037557-67038044	GM12878	blood:	n/a	n/a
42	MTA3	chr11:67036700-67038833	GM12878	blood:	n/a	n/a
43	MAX	chr11:67037917-67038260	H1-hESC	embryonic stem cell:	n/a	n/a
44	SIN3A	chr11:67037735-67038253	H1-hESC	embryonic stem cell:	n/a	chr11:67038044-67038053
45	POLR2A	chr11:67037071-67038376	SK-N-MC	brain:	n/a	n/a
46	TAF1	chr11:67037680-67038314	PFSK-1	brain:	n/a	n/a
47	SP4	chr11:67037840-67038300	H1-hESC	embryonic stem cell:	n/a	n/a
48	SIN3AK20	chr11:67037733-67038200	PFSK-1	brain:	n/a	n/a
49	GTF2F1	chr11:67037800-67038122	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAX	chr11:67037520-67038706	NB4	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67033933..67038277-chr11:67140224..67143646,5	MCF-7	breast:

No data

Variant related genes	Relation type
ADRBK1	TF binding region
ENSG00000256514	Chromatin interaction
ENSG00000175505	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12279818	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12285097	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417116	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12417770	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12417887	0.86[ASN][1000 genomes]
rs12418407	0.82[AMR][1000 genomes]
rs12419315	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12420479	0.86[ASN][1000 genomes]
rs12420556	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12420594	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12420763	0.83[AMR][1000 genomes]
rs12421018	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12421536	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1573536	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1574103	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17148080	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17148183	0.85[AMR][1000 genomes]
rs2066494	0.85[AFR][1000 genomes]
rs28364240	0.81[AMR][1000 genomes]
rs3730140	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4084238	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4382915	0.88[AMR][1000 genomes]
rs4567468	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4930198	0.83[AMR][1000 genomes]
rs4930414	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4930415	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4930416	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61525626	0.88[AMR][1000 genomes]
rs61731786	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61758493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61759806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61763963	1.00[EUR][1000 genomes]
rs7396248	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs885833	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs887315	0.85[AMR][1000 genomes];0.86[ASN][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	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
9	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
10	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
11	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 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	chr11:67034400-67039200	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr11:67034400-67041400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr11:67034600-67039400	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr11:67034600-67040800	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr11:67034600-67041400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
6	chr11:67034800-67038200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:67034800-67039000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr11:67034800-67039800	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
9	chr11:67034800-67041000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:67035000-67040400	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
11	chr11:67035000-67040400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:67035000-67040400	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:67035000-67040400	Transcr. at gene 5' and 3'	Thymus	Thymus
14	chr11:67035000-67040800	Weak transcription	Ovary	ovary
15	chr11:67035200-67039400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:67035200-67039600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr11:67035200-67039600	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:67035200-67039800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
19	chr11:67035200-67040400	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
20	chr11:67035400-67038600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:67035400-67040800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:67035400-67044400	Weak transcription	A549	lung
23	chr11:67035600-67040000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr11:67035600-67041200	Genic enhancers	Gastric	stomach
25	chr11:67035600-67041400	Enhancers	Fetal Heart	heart
26	chr11:67035600-67041600	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr11:67035600-67046400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr11:67035800-67038400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:67035800-67038400	Genic enhancers	HepG2	liver
30	chr11:67035800-67038800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
31	chr11:67035800-67044600	Enhancers	Left Ventricle	heart
32	chr11:67036000-67040400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr11:67036000-67041000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:67036200-67038600	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr11:67036200-67038800	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr11:67036200-67040600	Weak transcription	HMEC	breast
37	chr11:67036400-67038600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:67036600-67038200	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr11:67036600-67038400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:67036600-67039000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr11:67036800-67038400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr11:67036800-67038600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:67036800-67038600	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr11:67036800-67038600	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr11:67036800-67038600	Enhancers	Small Intestine	intestine
46	chr11:67036800-67039600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:67036800-67041000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr11:67037000-67038200	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr11:67037000-67038400	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr11:67037000-67038400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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