Variant report

Variant	rs11236096
Chromosome Location	chr11:74108950-74108951
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	chr11:74108443-74110343	H1-neurons	neurons:	n/a	n/a
2	CTCF	chr11:74108840-74108990	GM06990	blood:	n/a	chr11:74108974-74108987
3	POLR2A	chr11:74108882-74109997	MCF-7	breast:	n/a	n/a
4	YY1	chr11:74108894-74109589	HepG2	liver:	n/a	chr11:74108969-74108980 chr11:74108991-74109011
5	CTCF	chr11:74108880-74109030	HMEC	breast:	n/a	chr11:74108974-74108987
6	POLR2A	chr11:74108843-74110423	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr11:74108501-74109024	IMR90	lung:	n/a	chr11:74108973-74108986 chr11:74108526-74108539 chr11:74108909-74108923 chr11:74108972-74108984
8	SMARCB1	chr11:74108839-74110206	Hela-S3	cervix:	n/a	chr11:74109865-74109874 chr11:74109914-74109923
9	POLR2A	chr11:74108924-74110240	Gliobla	brain:	n/a	n/a
10	ZBTB7A	chr11:74108869-74109510	K562	blood:	n/a	n/a
11	MAZ	chr11:74108710-74110230	K562	blood:	n/a	n/a
12	POLR2A	chr11:74108761-74110441	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr11:74108437-74110578	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr11:74108926-74110257	A549	lung:	n/a	n/a
15	MXI1	chr11:74108593-74110752	IMR90	lung:	n/a	n/a
16	ZBTB7A	chr11:74108801-74109524	ECC-1	luminal epithelium:	n/a	n/a
17	KAP1	chr11:74108546-74109016	HEK293	kidney:	n/a	n/a
18	HMGN3	chr11:74108887-74110015	K562	blood:	n/a	n/a
19	SIN3AK20	chr11:74108806-74110014	PANC-1	pancreas:	n/a	n/a
20	MYC	chr11:74108929-74109323	MCF-7	breast:	n/a	n/a
21	ZBTB7A	chr11:74108816-74109991	ECC-1	luminal epithelium:	n/a	n/a
22	RFX5	chr11:74108476-74108973	Hela-S3	cervix:	n/a	n/a
23	MAZ	chr11:74108347-74110344	IMR90	lung:	n/a	n/a
24	RCOR1	chr11:74108936-74109247	K562	blood:	n/a	n/a
25	POLR2A	chr11:74108395-74110386	H1-neurons	neurons:	n/a	n/a
26	HCFC1	chr11:74108250-74110787	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:74108542-74110200	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr11:74108920-74109070	GM12873	blood:	n/a	chr11:74108974-74108987
29	RCOR1	chr11:74108949-74109126	K562	blood:	n/a	n/a
30	ELF1	chr11:74108811-74110014	GM12878	blood:	n/a	chr11:74109229-74109241 chr11:74108910-74108922
31	SIN3A	chr11:74108407-74110234	H1-hESC	embryonic stem cell:	n/a	chr11:74109346-74109354 chr11:74109839-74109852
32	MAX	chr11:74108403-74110372	A549	lung:	n/a	n/a
33	MAX	chr11:74108607-74110212	NB4	blood:	n/a	n/a
34	CTCF	chr11:74108840-74108990	AG04449	skin:	n/a	chr11:74108974-74108987
35	SMARCC1	chr11:74108495-74109353	Hela-S3	cervix:	n/a	n/a
36	TCF12	chr11:74108869-74110211	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr11:74108857-74110243	A549	lung:	n/a	n/a
38	ZNF384	chr11:74108487-74108967	K562	blood:	n/a	n/a
39	SPI1	chr11:74108595-74109088	HL-60	blood:	n/a	chr11:74108854-74108861
40	MYC	chr11:74108892-74109131	MCF-7	breast:	n/a	n/a
41	POLR2A	chr11:74108751-74110487	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr11:74108900-74109050	WERI-Rb-1	eye:	n/a	chr11:74108974-74108987
43	TCF12	chr11:74108399-74109106	A549	lung:	n/a	n/a
44	POLR2A	chr11:74108544-74110604	PBDE	blood:	n/a	n/a
45	REST	chr11:74108119-74110660	H1-neurons	neurons:	n/a	chr11:74109888-74109906 chr11:74109279-74109292 chr11:74109016-74109026 chr11:74109887-74109907

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74108659..74110537-chr11:74118206..74120213,2	K562	blood:
2	chr1:154934133..154935027-chr11:74108929..74109438,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLD3-4	chr11:74108814-74108950	ENSG00000254631.1
2	lnc-POLD3-4	chr11:74108814-74108950	ENSG00000254631.1
3	lnc-KCNE3-1	chr11:74108791-74109453	NONHSAT022898

Variant related genes	Relation type
MIR548AL	TF binding region
ENSG00000271380	Chromatin interaction
ENSG00000255440	Chromatin interaction
ENSG00000163348	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10898980	0.82[EUR][1000 genomes]
rs10898984	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11236071	0.81[EUR][1000 genomes]
rs11236072	0.82[EUR][1000 genomes]
rs11236077	0.83[EUR][1000 genomes]
rs11236082	0.83[EUR][1000 genomes]
rs11236083	0.82[EUR][1000 genomes]
rs11236091	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11236092	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11236093	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12049823	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12225215	0.82[EUR][1000 genomes]
rs12278437	0.82[ASN][1000 genomes]
rs2509531	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2509532	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3132913	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3132914	0.88[ASN][1000 genomes]
rs485578	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs496428	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs515924	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs516683	0.89[ASN][1000 genomes]
rs520464	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs573077	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs577245	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs585600	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs585613	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs588725	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs599605	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs600085	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61258589	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61288268	0.82[EUR][1000 genomes]
rs61902404	0.82[EUR][1000 genomes]
rs624049	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs628191	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs630893	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs633481	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs636501	0.89[ASN][1000 genomes]
rs647870	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs676103	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs677761	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs679618	0.89[ASN][1000 genomes]
rs687958	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7924914	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv1049915	chr11:74052264-74126319	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 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	chr11:74107200-74110400	Active TSS	Fetal Brain Female	brain
2	chr11:74107800-74109200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:74107800-74109200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:74107800-74110000	Active TSS	H1 Cell Line	embryonic stem cell
5	chr11:74107800-74110000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:74107800-74110000	Active TSS	Muscle Satellite Cultured Cells	--
7	chr11:74107800-74110000	Active TSS	Fetal Lung	lung
8	chr11:74107800-74110000	Active TSS	NH-A	brain
9	chr11:74107800-74110400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr11:74107800-74110400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:74107800-74110400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:74107800-74110400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:74107800-74110400	Active TSS	Thymus	Thymus
14	chr11:74107800-74110600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:74107800-74110600	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr11:74107800-74110600	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr11:74107800-74110800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr11:74108000-74109400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr11:74108000-74110000	Active TSS	Fetal Thymus	thymus
20	chr11:74108000-74110200	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr11:74108000-74110400	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr11:74108000-74110400	Active TSS	Brain Anterior Caudate	brain
23	chr11:74108000-74110600	Active TSS	Fetal Brain Male	brain
24	chr11:74108000-74110600	Active TSS	Fetal Kidney	kidney
25	chr11:74108000-74110600	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr11:74108200-74109000	Flanking Active TSS	Hela-S3	cervix
27	chr11:74108200-74109400	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr11:74108200-74110000	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr11:74108200-74110000	Active TSS	HMEC	breast
30	chr11:74108200-74110000	Active TSS	HUVEC	blood vessel
31	chr11:74108200-74110400	Active TSS	H9 Cell Line	embryonic stem cell
32	chr11:74108200-74110400	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr11:74108200-74110400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:74108200-74110400	Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr11:74108200-74110400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:74108200-74110400	Active TSS	Brain Angular Gyrus	brain
37	chr11:74108200-74110400	Active TSS	Fetal Stomach	stomach
38	chr11:74108200-74110400	Active TSS	HSMM	muscle
39	chr11:74108200-74110600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:74108200-74110600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:74108200-74110600	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr11:74108200-74110600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:74108400-74109000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:74108400-74109000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr11:74108400-74109000	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr11:74108400-74109000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:74108400-74109000	Flanking Active TSS	NHEK	skin
48	chr11:74108400-74109200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr11:74108400-74109200	Flanking Active TSS	Dnd41	blood
50	chr11:74108400-74110000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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