Variant report

Variant	rs694109
Chromosome Location	chr11:36398122-36398123
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	E2F6	chr11:36397991-36399694	H1-hESC	embryonic stem cell:	n/a	chr11:36398691-36398698 chr11:36398933-36398945 chr11:36398933-36398941 chr11:36399212-36399222 chr11:36398691-36398698 chr11:36398691-36398698 chr11:36398690-36398699
2	MAX	chr11:36397752-36398192	MCF-7	breast:	n/a	n/a
3	MAX	chr11:36397811-36399582	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:36397651-36398136	U87	brain:	n/a	n/a
5	POLR2A	chr11:36397936-36398132	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:36397695-36398252	ProgFib	skin:	n/a	n/a
7	POLR2A	chr11:36397830-36398225	ECC-1	luminal epithelium:	n/a	n/a
8	CTCF	chr11:36398040-36398190	RPTEC	kidney:	n/a	n/a
9	POLR2A	chr11:36397458-36398247	U87	brain:	n/a	n/a
10	MYC	chr11:36397919-36400110	A549	lung:	n/a	n/a
11	MYC	chr11:36398069-36398269	MCF10A-Er-Src	breast:	n/a	n/a
12	ZNF263	chr11:36397518-36399681	HEK293-T-REx	kidney:	n/a	chr11:36397762-36397771
13	POLR2A	chr11:36397807-36398123	A549	lung:	n/a	n/a
14	MAX	chr11:36397720-36399681	A549	lung:	n/a	n/a
15	POLR2A	chr11:36397731-36398220	MCF-7	breast:	n/a	n/a
16	POLR2A	chr11:36397637-36398241	U87	brain:	n/a	n/a
17	E2F6	chr11:36397862-36399561	A549	lung:	n/a	chr11:36398691-36398698 chr11:36398933-36398945 chr11:36398933-36398941 chr11:36399212-36399222 chr11:36398691-36398698 chr11:36398691-36398698 chr11:36398690-36398699
18	POLR2A	chr11:36397941-36398190	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr11:36397849-36398151	A549	lung:	n/a	n/a
20	GTF2F1	chr11:36398106-36398142	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTBP2	chr11:36397549-36399546	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr11:36397823-36399047	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr11:36397716-36398233	HUVEC	blood vessel:	n/a	n/a
24	MAX	chr11:36397889-36399186	ECC-1	luminal epithelium:	n/a	n/a
25	ZBTB7A	chr11:36397918-36399246	ECC-1	luminal epithelium:	n/a	chr11:36399010-36399019 chr11:36398393-36398407
26	MAX	chr11:36397814-36399581	A549	lung:	n/a	n/a
27	POLR2A	chr11:36397402-36398245	SK-N-MC	brain:	n/a	n/a
28	POLR2A	chr11:36397881-36398138	MCF-7	breast:	n/a	n/a
29	POLR2A	chr11:36396755-36400145	SK-N-MC	brain:	n/a	n/a
30	SIN3A	chr11:36397442-36399495	H1-hESC	embryonic stem cell:	n/a	chr11:36397558-36397571 chr11:36399084-36399097 chr11:36398208-36398219
31	BACH1	chr11:36397930-36399497	H1-hESC	embryonic stem cell:	n/a	n/a
32	ZBTB7A	chr11:36397427-36399219	ECC-1	luminal epithelium:	n/a	chr11:36399010-36399019 chr11:36397717-36397725 chr11:36398393-36398407
33	TCF12	chr11:36397726-36398338	ECC-1	luminal epithelium:	n/a	n/a
34	MAZ	chr11:36397445-36399289	IMR90	lung:	n/a	n/a
35	POLR2A	chr11:36397911-36399327	IMR90	lung:	n/a	n/a
36	POLR2A	chr11:36397914-36398330	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr11:36397688-36398586	Gliobla	brain:	n/a	n/a
38	MXI1	chr11:36397658-36399802	IMR90	lung:	n/a	chr11:36399458-36399473 chr11:36399456-36399471
39	CTCF	chr11:36397980-36398130	SAEC	small airway:	n/a	n/a
40	ZNF143	chr11:36397624-36398411	H1-hESC	embryonic stem cell:	n/a	chr11:36398359-36398377
41	FOXA1	chr11:36397870-36398175	T-47D	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAG1-5	chr11:36397932-36398254	NONHSAT018820
2	lnc-RAG1-5	chr11:36397951-36398254	NONHSAT018821
3	lnc-RAG1-5	chr11:36398094-36398254	NONHSAT018822

Variant related genes	Relation type
PRR5L	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10836543	1.00[EUR][1000 genomes]
rs11826255	0.82[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12288088	1.00[EUR][1000 genomes]
rs2467084	1.00[EUR][1000 genomes]
rs2554013	1.00[EUR][1000 genomes]
rs417207	1.00[EUR][1000 genomes]
rs452838	1.00[EUR][1000 genomes]
rs960638	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36397000-36399400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:36397200-36399200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
3	chr11:36397200-36399400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:36397200-36399400	Active TSS	NH-A	brain
5	chr11:36397200-36399800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr11:36397200-36399800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr11:36397400-36398200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:36397400-36398200	Active TSS	Fetal Intestine Small	intestine
9	chr11:36397400-36398200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
10	chr11:36397400-36398400	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr11:36397400-36398400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:36397400-36398400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:36397400-36398400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr11:36397400-36398400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:36397400-36398600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:36397400-36398600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr11:36397400-36399200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:36397400-36399200	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr11:36397400-36399200	Active TSS	Hela-S3	cervix
20	chr11:36397400-36399200	Active TSS	NHEK	skin
21	chr11:36397400-36399400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr11:36397400-36399400	Active TSS	H9 Cell Line	embryonic stem cell
23	chr11:36397400-36399400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:36397400-36399400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr11:36397400-36399400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr11:36397400-36399400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:36397400-36399400	Active TSS	Ovary	ovary
28	chr11:36397400-36399400	Active TSS	Placenta Amnion	Placenta Amnion
29	chr11:36397400-36399400	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr11:36397400-36399400	Active TSS	Right Atrium	heart
31	chr11:36397400-36399600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr11:36397400-36399600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
33	chr11:36397400-36399800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
34	chr11:36397400-36399800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
35	chr11:36397400-36399800	Active TSS	HSMM	muscle
36	chr11:36397400-36400000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr11:36397400-36401000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:36397600-36398200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:36397600-36398200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:36397600-36398200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:36397600-36398200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:36397600-36398400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:36397600-36398400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:36397600-36398400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:36397600-36398400	Active TSS	Duodenum Mucosa	Duodenum
46	chr11:36397600-36398400	Bivalent Enhancer	Fetal Brain Male	brain
47	chr11:36397600-36398400	Active TSS	Lung	lung
48	chr11:36397600-36398600	Active TSS	Right Ventricle	heart
49	chr11:36397600-36399200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:36397600-36399200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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