Variant report

Variant	rs11803766
Chromosome Location	chr1:212587669-212587670
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	MYC	chr1:212587629-212589222	NB4	blood:	n/a	chr1:212588309-212588319 chr1:212587669-212587679
2	TCF12	chr1:212587626-212588635	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr1:212587408-212588556	ECC-1	luminal epithelium:	n/a	chr1:212588309-212588319 chr1:212587669-212587679
4	E2F6	chr1:212587542-212587711	K562	blood:	n/a	n/a
5	CCNT2	chr1:212587629-212588458	K562	blood:	n/a	n/a
6	MAX	chr1:212587315-212589069	GM12878	blood:	n/a	chr1:212588309-212588319 chr1:212587669-212587679
7	CHD2	chr1:212587625-212587691	HepG2	liver:	n/a	n/a
8	HMGN3	chr1:212587519-212588498	K562	blood:	n/a	n/a
9	CHD2	chr1:212587406-212587692	GM12878	blood:	n/a	n/a
10	HCFC1	chr1:212587426-212589189	K562	blood:	n/a	n/a
11	POLR2A	chr1:212587484-212589250	GM12878	blood:	n/a	n/a
12	EP300	chr1:212587642-212587767	HepG2	liver:	n/a	chr1:212587728-212587744
13	E2F6	chr1:212587457-212588516	K562	blood:	n/a	chr1:212588249-212588258 chr1:212587799-212587809
14	HA-E2F1	chr1:212587476-212588631	MCF-7	breast:	n/a	chr1:212588249-212588258 chr1:212588264-212588275 chr1:212587799-212587809
15	SREBP1	chr1:212587176-212589923	GM12878	blood:	n/a	n/a
16	NFIC	chr1:212587294-212587762	GM12878	blood:	n/a	n/a
17	MXI1	chr1:212587309-212587791	GM12878	blood:	n/a	n/a
18	ELF1	chr1:212587636-212588573	K562	blood:	n/a	chr1:212588264-212588273
19	POLR2A	chr1:212587655-212588550	H1-hESC	embryonic stem cell:	n/a	n/a
20	ZNF263	chr1:212586794-212588562	HEK293-T-REx	kidney:	n/a	chr1:212587473-212587482 chr1:212587663-212587672
21	MAX	chr1:212587513-212588675	A549	lung:	n/a	chr1:212588309-212588319 chr1:212587669-212587679
22	POLR2A	chr1:212587655-212589175	GM19193	blood:	n/a	n/a
23	EP300	chr1:212587377-212587759	GM12878	blood:	n/a	chr1:212587728-212587744
24	EP300	chr1:212587587-212587678	GM12878	blood:	n/a	n/a
25	ZNF143	chr1:212587514-212587713	K562	blood:	n/a	n/a
26	MYC	chr1:212587571-212587761	H1-hESC	embryonic stem cell:	n/a	chr1:212587669-212587679
27	MAX	chr1:212587427-212589193	NB4	blood:	n/a	chr1:212588309-212588319 chr1:212587669-212587679
28	GABPA	chr1:212587526-212588436	K562	blood:	n/a	chr1:212588245-212588259 chr1:212588250-212588259 chr1:212588248-212588257 chr1:212588248-212588259
29	JUN	chr1:212586575-212589515	K562	blood:	n/a	chr1:212587985-212587994 chr1:212589466-212589475
30	MAX	chr1:212587497-212588710	H1-hESC	embryonic stem cell:	n/a	chr1:212588309-212588319 chr1:212587669-212587679
31	POLR2A	chr1:212587590-212588744	HepG2	liver:	n/a	n/a
32	MAX	chr1:212587526-212588616	HepG2	liver:	n/a	chr1:212588309-212588319 chr1:212587669-212587679
33	MXI1	chr1:212587329-212588693	IMR90	lung:	n/a	n/a
34	ZBTB7A	chr1:212587647-212588532	ECC-1	luminal epithelium:	n/a	n/a
35	TBP	chr1:212587470-212587799	K562	blood:	n/a	n/a
36	ELF1	chr1:212587147-212588486	GM12878	blood:	n/a	chr1:212588264-212588273
37	MXI1	chr1:212586634-212588790	SK-N-SH	brain:	n/a	n/a
38	RUNX3	chr1:212587451-212587837	GM12878	blood:	n/a	n/a
39	YY1	chr1:212587536-212587849	GM12878	blood:	n/a	n/a
40	MAZ	chr1:212587466-212587794	K562	blood:	n/a	chr1:212587669-212587679
41	HCFC1	chr1:212586968-212588965	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr1:212587494-212589159	GM12892	blood:	n/a	n/a
43	SIN3A	chr1:212587099-212588562	H1-hESC	embryonic stem cell:	n/a	chr1:212587958-212587969 chr1:212587966-212587977 chr1:212587866-212587877 chr1:212587894-212587907
44	TAF1	chr1:212587568-212587887	H1-hESC	embryonic stem cell:	n/a	n/a
45	ZNF143	chr1:212587474-212588634	GM12878	blood:	n/a	chr1:212588298-212588307 chr1:212588296-212588305 chr1:212587976-212587994
46	ZNF143	chr1:212587486-212588798	H1-hESC	embryonic stem cell:	n/a	chr1:212588298-212588307 chr1:212588296-212588305 chr1:212587976-212587994
47	POLR2A	chr1:212587632-212588666	GM15510	blood:	n/a	n/a
48	TCF7L2	chr1:212587506-212587820	PANC-1	pancreas:	n/a	n/a
49	RUNX3	chr1:212587429-212589362	GM12878	blood:	n/a	n/a
50	NR2F2	chr1:212587571-212589354	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:212458597..212460542-chr1:212586367..212588357,2	MCF-7	breast:
2	chr1:212587143..212589756-chr1:212965630..212967810,2	K562	blood:
3	chr1:212550848..212553114-chr1:212586010..212588532,2	MCF-7	breast:
4	chr1:212586222..212588940-chr1:212781343..212783037,2	K562	blood:
5	chr1:212586060..212592297-chr1:212603893..212609565,9	MCF-7	breast:
6	chr1:212457988..212460167-chr1:212585002..212587734,2	MCF-7	breast:
7	chr1:212549233..212551182-chr1:212586836..212589324,2	K562	blood:
8	chr1:212585974..212594847-chr1:212598812..212609579,19	K562	blood:
9	chr1:212586665..212588349-chr1:212964322..212966191,2	MCF-7	breast:
10	chr1:212581574..212584496-chr1:212586803..212589409,2	MCF-7	breast:

Variant related genes	Relation type
TMEM206	TF binding region
ENSG00000117691	Chromatin interaction
ENSG00000162772	Chromatin interaction
ENSG00000065600	Chromatin interaction
ENSG00000066027	Chromatin interaction
ENSG00000203705	Chromatin interaction
ENSG00000117697	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12739715	0.99[EUR][1000 genomes]
rs12755383	1.00[EUR][1000 genomes]
rs17018997	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35702733	0.99[EUR][1000 genomes]
rs35822123	0.83[EUR][1000 genomes]
rs4336916	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4540733	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6666415	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6669027	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6676208	0.94[EUR][1000 genomes]
rs6693849	0.82[EUR][1000 genomes]
rs6697910	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6704234	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71646158	0.83[EUR][1000 genomes]
rs71646159	0.94[EUR][1000 genomes]
rs71646161	1.00[EUR][1000 genomes]
rs7533689	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7551910	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS 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 target site	45 gene(s)	inside rSNPs	diseases
5	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
6	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
7	esv1828436	chr1:212577765-212591863	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv873156	chr1:212585092-212646225	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11803766	RP11-15I11.3	cis	lung	GTEx
rs11803766	RP11-15I11.3	cis	Adipose Subcutaneous	GTEx
rs11803766	RP11-15I11.3	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212586400-212587800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:212586800-212587800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr1:212586800-212588000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:212587000-212587800	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr1:212587000-212587800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
6	chr1:212587000-212587800	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr1:212587000-212587800	Flanking Active TSS	Hela-S3	cervix
8	chr1:212587000-212588200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:212587000-212588400	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr1:212587000-212588400	Active TSS	Fetal Kidney	kidney
11	chr1:212587000-212588400	Active TSS	HSMM	muscle
12	chr1:212587000-212588600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr1:212587000-212588800	Enhancers	Fetal Heart	heart
14	chr1:212587000-212589000	Active TSS	Rectal Smooth Muscle	rectum
15	chr1:212587200-212587800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:212587200-212587800	Flanking Active TSS	Colonic Mucosa	Colon
17	chr1:212587200-212588000	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr1:212587200-212588400	Active TSS	HSMMtube	muscle
19	chr1:212587200-212588600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:212587200-212588600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:212587400-212587800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr1:212587400-212587800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:212587400-212587800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:212587400-212587800	Flanking Active TSS	Placenta	Placenta
25	chr1:212587400-212588000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:212587400-212588000	Active TSS	Right Atrium	heart
27	chr1:212587400-212588200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr1:212587400-212588200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:212587400-212588200	Active TSS	Brain Substantia Nigra	brain
30	chr1:212587400-212588200	Active TSS	Fetal Stomach	stomach
31	chr1:212587400-212588200	Active TSS	Placenta Amnion	Placenta Amnion
32	chr1:212587400-212588200	Active TSS	NHEK	skin
33	chr1:212587400-212588400	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr1:212587400-212588400	Active TSS	H1 Cell Line	embryonic stem cell
35	chr1:212587400-212588400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:212587400-212588400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:212587400-212588400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:212587400-212588400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:212587400-212588400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:212587400-212588400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:212587400-212588400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:212587400-212588400	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr1:212587400-212588400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:212587400-212588400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:212587400-212588400	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr1:212587400-212588400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:212587400-212588400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:212587400-212588400	Active TSS	Brain Angular Gyrus	brain
49	chr1:212587400-212588400	Active TSS	Brain Anterior Caudate	brain
50	chr1:212587400-212588400	Active TSS	Brain Hippocampus Middle	brain

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