Variant report

Variant	rs11776965
Chromosome Location	chr8:10697880-10697881
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	E2F4	chr8:10697185-10697955	MCF10A-Er-Src	breast:	n/a	chr8:10697400-10697409 chr8:10697398-10697407
2	HCFC1	chr8:10696157-10697962	Hela-S3	cervix:	n/a	n/a
3	CREB1	chr8:10696982-10697895	GM12878	blood:	n/a	chr8:10697397-10697410
4	MXI1	chr8:10696152-10697954	GM12878	blood:	n/a	n/a
5	SRF	chr8:10697129-10697882	ECC-1	luminal epithelium:	n/a	n/a
6	SIN3AK20	chr8:10696932-10697933	HCT-116	colon:	n/a	n/a
7	USF2	chr8:10697231-10697910	Hela-S3	cervix:	n/a	chr8:10697375-10697391 chr8:10697367-10697383
8	SIN3AK20	chr8:10696968-10698019	MCF-7	breast:	n/a	n/a
9	MAX	chr8:10696430-10698026	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr8:10696436-10697891	GM18951	blood:	n/a	n/a
11	POLR2A	chr8:10696960-10697989	GM12892	blood:	n/a	n/a
12	TAF1	chr8:10696881-10697885	H1-hESC	embryonic stem cell:	n/a	n/a
13	JUN	chr8:10696923-10698023	K562	blood:	n/a	chr8:10697547-10697556 chr8:10697399-10697408
14	HA-E2F1	chr8:10697172-10697896	MCF-7	breast:	n/a	chr8:10697400-10697409 chr8:10697398-10697407
15	TBP	chr8:10697200-10697969	HepG2	liver:	n/a	n/a
16	REST	chr8:10696169-10697919	H1-neurons	neurons:	n/a	chr8:10697451-10697464
17	POLR2A	chr8:10696939-10697939	U87	brain:	n/a	n/a
18	E2F6	chr8:10697104-10697914	A549	lung:	n/a	chr8:10697400-10697409 chr8:10697398-10697407
19	POLR2A	chr8:10696371-10698275	PBDE	blood:	n/a	n/a
20	POLR2A	chr8:10696964-10697989	HUVEC	blood vessel:	n/a	n/a
21	MYC	chr8:10696417-10698010	MCF10A-Er-Src	breast:	n/a	n/a
22	KAP1	chr8:10697140-10697941	HEK293	kidney:	n/a	n/a
23	MAX	chr8:10697043-10697880	H1-hESC	embryonic stem cell:	n/a	n/a
24	EP300	chr8:10697308-10697881	GM12878	blood:	n/a	chr8:10697558-10697571
25	MAX	chr8:10697015-10697906	MCF-7	breast:	n/a	n/a
26	POLR2A	chr8:10696447-10698160	GM18505	blood:	n/a	n/a
27	MXI1	chr8:10696242-10697893	IMR90	lung:	n/a	n/a
28	POLR2A	chr8:10696474-10697928	Hela-S3	cervix:	n/a	n/a
29	ZNF263	chr8:10697176-10697894	HEK293-T-REx	kidney:	n/a	n/a
30	MAX	chr8:10696955-10698017	HCT-116	colon:	n/a	n/a
31	CTCF	chr8:10697837-10697920	Spleen_OC	spleen:	n/a	n/a
32	MYC	chr8:10696370-10697975	K562	blood:	n/a	n/a
33	POLR2A	chr8:10696415-10698145	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr8:10697069-10697939	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr8:10696577-10697927	GM15510	blood:	n/a	n/a
36	POLR2A	chr8:10696316-10697977	MCF10A-Er-Src	breast:	n/a	n/a
37	SP1	chr8:10696975-10697881	A549	lung:	n/a	chr8:10697520-10697531 chr8:10697444-10697456 chr8:10697441-10697455 chr8:10697456-10697465 chr8:10697446-10697455 chr8:10697445-10697454 chr8:10697444-10697456 chr8:10697444-10697455
38	USF1	chr8:10697154-10697894	ECC-1	luminal epithelium:	n/a	chr8:10697375-10697391 chr8:10697367-10697383
39	TBL1XR1	chr8:10697175-10697887	GM12878	blood:	n/a	n/a
40	MXI1	chr8:10696164-10698606	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr8:10697136-10698010	GM12878	blood:	n/a	n/a
42	MAX	chr8:10697032-10697906	MCF-7	breast:	n/a	n/a
43	POLR2A	chr8:10696084-10698426	GM12891	blood:	n/a	n/a
44	MAX	chr8:10697156-10697887	SK-N-SH	brain:	n/a	n/a
45	TRIM28	chr8:10697236-10697886	K562	blood:	n/a	n/a
46	MAX	chr8:10696892-10697972	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr8:10696413-10697893	Raji	blood:	n/a	n/a
48	POLR2A	chr8:10696212-10698336	K562	blood:	n/a	n/a
49	MAX	chr8:10697012-10697924	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr8:10697034-10697928	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:10687156..10690707-chr8:10693616..10698468,7	K562	blood:
2	chr8:10690421..10694581-chr8:10695821..10698975,5	MCF-7	breast:
3	chr8:10528112..10530692-chr8:10696880..10699073,2	K562	blood:

Variant related genes	Relation type
PINX1	TF binding region
ENSG00000253695	TF binding region
SOX7	TF binding region
ENSG00000258724	TF binding region
ENSG00000254093	Chromatin interaction
ENSG00000171060	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10089548	0.83[ASN][1000 genomes]
rs10503411	0.83[ASN][1000 genomes]
rs11774457	0.94[ASN][1000 genomes]
rs11779094	0.94[ASN][1000 genomes]
rs11779336	0.94[ASN][1000 genomes]
rs11782490	0.94[ASN][1000 genomes]
rs13265197	0.94[ASN][1000 genomes]
rs13269447	0.94[ASN][1000 genomes]
rs17152542	0.94[ASN][1000 genomes]
rs17152623	0.94[ASN][1000 genomes]
rs2409660	0.83[ASN][1000 genomes]
rs28544530	0.94[ASN][1000 genomes]
rs28675255	0.94[ASN][1000 genomes]
rs28706358	0.94[ASN][1000 genomes]
rs2898245	0.94[ASN][1000 genomes]
rs3808604	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4840515	0.83[ASN][1000 genomes]
rs4840518	0.94[ASN][1000 genomes]
rs4841447	0.94[ASN][1000 genomes]
rs4841448	0.94[ASN][1000 genomes]
rs4841449	0.94[ASN][1000 genomes]
rs4841453	0.94[ASN][1000 genomes]
rs4841455	0.94[ASN][1000 genomes]
rs57689233	0.88[ASN][1000 genomes]
rs57868806	0.88[ASN][1000 genomes]
rs6983956	0.83[ASN][1000 genomes]
rs7012879	0.89[ASN][1000 genomes]
rs73531553	0.94[ASN][1000 genomes]
rs73531554	0.94[ASN][1000 genomes]
rs73533521	0.94[ASN][1000 genomes]
rs73533523	0.94[ASN][1000 genomes]
rs7813875	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1019754	chr8:10617908-10700140	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv539471	chr8:10617908-10700140	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv508497	chr8:10680621-10750255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11776965	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10695800-10698000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:10696000-10698200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:10696000-10698200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr8:10696000-10698200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:10696000-10698200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:10696200-10698000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr8:10696200-10698000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr8:10696200-10698000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:10696200-10698000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:10696200-10698000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr8:10696200-10698000	Active TSS	Psoas Muscle	Psoas
12	chr8:10696200-10698200	Active TSS	H1 Cell Line	embryonic stem cell
13	chr8:10696200-10698200	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr8:10696200-10698200	Active TSS	GM12878-XiMat	blood
15	chr8:10696400-10698000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:10696400-10698000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:10696400-10698000	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr8:10696400-10698000	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr8:10696400-10698000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:10696400-10698000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:10696400-10698000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:10696400-10698000	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr8:10696400-10698000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:10696400-10698000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:10696400-10698000	Active TSS	Brain Germinal Matrix	brain
26	chr8:10696400-10698000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:10696400-10698000	Active TSS	Colonic Mucosa	Colon
28	chr8:10696400-10698000	Active TSS	Fetal Brain Female	brain
29	chr8:10696400-10698000	Active TSS	Fetal Stomach	stomach
30	chr8:10696400-10698000	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr8:10696400-10698000	Active TSS	NH-A	brain
32	chr8:10696400-10698200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:10696400-10698200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:10696400-10698200	Active TSS	Fetal Kidney	kidney
35	chr8:10696600-10698000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:10696600-10698000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:10696600-10698000	Active TSS	Brain Anterior Caudate	brain
38	chr8:10696600-10698000	Active TSS	Brain Cingulate Gyrus	brain
39	chr8:10696600-10698000	Active TSS	Brain Hippocampus Middle	brain
40	chr8:10696600-10698000	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr8:10696600-10698000	Active TSS	Brain Substantia Nigra	brain
42	chr8:10696600-10698000	Active TSS	Colon Smooth Muscle	Colon
43	chr8:10696600-10698000	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr8:10696600-10698000	Active TSS	Fetal Brain Male	brain
45	chr8:10696600-10698000	Active TSS	Fetal Intestine Large	intestine
46	chr8:10696600-10698000	Active TSS	Rectal Smooth Muscle	rectum
47	chr8:10696600-10698000	Active TSS	Thymus	Thymus
48	chr8:10696600-10698000	Active TSS	HSMM	muscle
49	chr8:10696600-10698200	Active TSS	Brain Angular Gyrus	brain
50	chr8:10696800-10698000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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