Variant report

Variant	rs11991001
Chromosome Location	chr8:95731523-95731524
allele	C/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	chr8:95731325-95732537	U87	brain:	n/a	n/a
2	JUN	chr8:95731410-95732189	K562	blood:	n/a	chr8:95731495-95731504 chr8:95731497-95731506 chr8:95731496-95731505 chr8:95731492-95731501 chr8:95731493-95731502
3	IRF1	chr8:95731493-95732360	K562	blood:	n/a	chr8:95732106-95732115 chr8:95732294-95732308 chr8:95731884-95731898
4	REST	chr8:95731514-95732520	MCF-7	breast:	n/a	chr8:95732383-95732396 chr8:95731958-95731971
5	HDAC2	chr8:95731428-95732943	MCF-7	breast:	n/a	n/a
6	POLR2A	chr8:95731439-95732815	HepG2	liver:	n/a	n/a
7	TAF1	chr8:95731509-95732229	SK-N-SH	brain:	n/a	n/a
8	YY1	chr8:95731470-95732491	SK-N-SH_RA	brain:	n/a	chr8:95732298-95732307 chr8:95732350-95732364 chr8:95731491-95731500 chr8:95732296-95732307 chr8:95731988-95732002 chr8:95731994-95732008 chr8:95731985-95731999 chr8:95732353-95732367 chr8:95731931-95731940
9	POLR2A	chr8:95731436-95732640	HCT-116	colon:	n/a	n/a
10	MXI1	chr8:95731012-95733228	SK-N-SH	brain:	n/a	n/a
11	TEAD4	chr8:95731518-95732162	K562	blood:	n/a	n/a
12	POLR2A	chr8:95731114-95732706	GM12891	blood:	n/a	n/a
13	TCF12	chr8:95731386-95732784	A549	lung:	n/a	n/a
14	POLR2A	chr8:95731516-95732570	GM18505	blood:	n/a	n/a
15	POLR2A	chr8:95730767-95732960	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr8:95731522-95732562	SK-N-SH	brain:	n/a	n/a
17	TCF7L2	chr8:95731510-95732701	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr8:95731403-95732588	ECC-1	luminal epithelium:	n/a	n/a
19	REST	chr8:95731471-95733020	H1-neurons	neurons:	n/a	chr8:95732383-95732396 chr8:95731958-95731971
20	POLR2A	chr8:95731453-95732650	HUVEC	blood vessel:	n/a	n/a
21	TAF1	chr8:95731463-95732603	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr8:95731515-95732819	HepG2	liver:	n/a	n/a
23	POLR2A	chr8:95731430-95732714	H1-hESC	embryonic stem cell:	n/a	n/a
24	ELF1	chr8:95731472-95732904	MCF-7	breast:	n/a	chr8:95732345-95732357 chr8:95732100-95732113 chr8:95732503-95732515
25	MTA3	chr8:95731404-95732796	GM12878	blood:	n/a	n/a
26	POLR2A	chr8:95731520-95732339	GM12891	blood:	n/a	n/a
27	ZMIZ1	chr8:95731506-95732425	K562	blood:	n/a	n/a
28	CEBPB	chr8:95731521-95732286	GM12878	blood:	n/a	n/a
29	POLR2A	chr8:95731145-95732757	Hela-S3	cervix:	n/a	n/a
30	TAF1	chr8:95731449-95732459	SK-N-SH	brain:	n/a	n/a
31	TAF7	chr8:95731508-95732255	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYBL2	chr8:95731510-95732665	HepG2	liver:	n/a	n/a
33	POU2F2	chr8:95731520-95732354	GM12891	blood:	n/a	chr8:95732293-95732305
34	YY1	chr8:95731522-95732472	K562	blood:	n/a	chr8:95732298-95732307 chr8:95732350-95732364 chr8:95732296-95732307 chr8:95731988-95732002 chr8:95731994-95732008 chr8:95731985-95731999 chr8:95732353-95732367 chr8:95731931-95731940
35	PML	chr8:95731426-95732601	K562	blood:	n/a	chr8:95732496-95732504
36	TAF1	chr8:95731323-95732580	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr8:95731474-95732456	GM12892	blood:	n/a	n/a
38	YY1	chr8:95731515-95732418	SK-N-SH_RA	brain:	n/a	chr8:95732298-95732307 chr8:95732350-95732364 chr8:95732296-95732307 chr8:95731988-95732002 chr8:95731994-95732008 chr8:95731985-95731999 chr8:95732353-95732367 chr8:95731931-95731940
39	STAT5A	chr8:95731499-95732278	K562	blood:	n/a	chr8:95732035-95732059 chr8:95732101-95732113
40	MAZ	chr8:95731418-95732838	K562	blood:	n/a	chr8:95731498-95731508
41	POLR2A	chr8:95731472-95732312	GM12891	blood:	n/a	n/a
42	POLR2A	chr8:95731443-95732481	SK-N-MC	brain:	n/a	n/a
43	MAFK	chr8:95731517-95732222	Hela-S3	cervix:	n/a	n/a
44	PML	chr8:95731359-95732830	GM12878	blood:	n/a	chr8:95732496-95732504
45	MAX	chr8:95731419-95732944	MCF-7	breast:	n/a	chr8:95731498-95731508
46	SRF	chr8:95731521-95732859	MCF-7	breast:	n/a	chr8:95732294-95732304 chr8:95731884-95731894
47	TEAD4	chr8:95731513-95732753	K562	blood:	n/a	n/a
48	SIN3AK20	chr8:95731370-95732873	MCF-7	breast:	n/a	n/a
49	POLR2A	chr8:95731399-95732569	GM12878	blood:	n/a	n/a
50	GABPA	chr8:95731506-95732544	A549	lung:	n/a	chr8:95732113-95732122 chr8:95732359-95732368

No.	Distal block	Cell Line	Cell type
1	chr8:94752319..94754025-chr8:95731183..95733270,2	K562	blood:
2	chr6:27782015..27782992-chr8:95731280..95732018,2	NB4	blood:
3	chr8:95564818..95567463-chr8:95729750..95733556,7	MCF-7	breast:
4	chr8:95485646..95487396-chr8:95731182..95733187,2	MCF-7	breast:
5	chr8:95724740..95726809-chr8:95728368..95731829,3	K562	blood:
6	chr8:95728931..95733735-chr8:95735785..95738955,5	K562	blood:
7	chr8:95731040..95733498-chr8:95907170..95908983,2	MCF-7	breast:
8	chr8:95564422..95566417-chr8:95731300..95733624,2	K562	blood:
9	chr8:95564312..95566828-chr8:95731001..95732970,2	MCF-7	breast:
10	chr8:95730604..95734079-chr8:95734980..95738829,4	K562	blood:
11	chr8:95448469..95450952-chr8:95730677..95732921,2	K562	blood:
12	chr15:72766094..72767084-chr8:95731493..95732399,2	Hela-S3	cervix:
13	chr8:95715757..95719252-chr8:95729531..95731963,3	MCF-7	breast:
14	chr8:95728931..95732611-chr8:95833805..95837140,4	MCF-7	breast:
15	chr8:95594768..95596866-chr8:95728891..95731835,2	MCF-7	breast:
16	chr8:95729194..95732045-chr8:95835297..95837724,2	MCF-7	breast:
17	chr8:95564422..95566417-chr8:95730460..95733624,3	K562	blood:
18	chr8:95729482..95731832-chr8:95838705..95841521,2	MCF-7	breast:
19	chr6:34855264..34858113-chr8:95729278..95731801,2	MCF-7	breast:
20	chr15:65596705..65598634-chr8:95730431..95732078,2	MCF-7	breast:
21	chr8:95650894..95656484-chr8:95728446..95733482,20	MCF-7	breast:
22	chr8:95650400..95656999-chr8:95729644..95735467,19	MCF-7	breast:
23	chr8:95485981..95488677-chr8:95730553..95733529,2	K562	blood:
24	chr8:95731513..95733267-chr8:95825138..95827545,2	MCF-7	breast:
25	chr8:95576615..95579797-chr8:95730119..95732056,3	MCF-7	breast:
26	chr8:95730539..95733622-chr8:95834206..95838888,6	K562	blood:
27	chr11:66383772..66384479-chr8:95731224..95732015,2	NB4	blood:

Variant related genes	Relation type
DPY19L4	TF binding region
ENSG00000261423	Chromatin interaction
ENSG00000182611	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000183808	Chromatin interaction
ENSG00000164941	Chromatin interaction
ENSG00000156162	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000197275	Chromatin interaction
ENSG00000164944	Chromatin interaction
ENSG00000064999	Chromatin interaction
ENSG00000199701	Chromatin interaction
ENSG00000104413	Chromatin interaction
ENSG00000261437	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000253704	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000064995	Chromatin interaction
ENSG00000212998	Chromatin interaction
ENSG00000196374	Chromatin interaction
ENSG00000253175	Chromatin interaction
ENSG00000265817	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000253848	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11986843	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11992120	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12176630	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16916994	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2722875	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2722882	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7000241	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73697004	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9642929	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers 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	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv511392	chr8:95721252-95732766	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv611751	chr8:95721435-95742394	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95729000-95731600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:95730600-95733800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr8:95730800-95731800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:95730800-95733000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:95730800-95733600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:95730800-95733800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr8:95731000-95731600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr8:95731000-95731600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:95731000-95732000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:95731000-95732200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:95731000-95732800	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr8:95731000-95732800	Active TSS	Rectal Smooth Muscle	rectum
13	chr8:95731000-95733000	Active TSS	Fetal Kidney	kidney
14	chr8:95731000-95733000	Active TSS	NHEK	skin
15	chr8:95731000-95733000	Active TSS	Osteobl	bone
16	chr8:95731000-95733200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr8:95731000-95733200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:95731000-95733400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr8:95731000-95733400	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr8:95731000-95733400	Active TSS	GM12878-XiMat	blood
21	chr8:95731000-95733400	Active TSS	HSMM	muscle
22	chr8:95731000-95733600	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr8:95731000-95733800	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr8:95731000-95733800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:95731000-95734000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:95731000-95734000	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr8:95731000-95734000	Active TSS	NHDF-Ad	bronchial
28	chr8:95731000-95734200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:95731200-95731600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:95731200-95731600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:95731200-95731600	Active TSS	HepG2	liver
32	chr8:95731200-95731800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:95731200-95731800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr8:95731200-95731800	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr8:95731200-95731800	Active TSS	Right Atrium	heart
36	chr8:95731200-95732400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:95731200-95732400	Active TSS	Primary T cells fromperipheralblood	blood
38	chr8:95731200-95732400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:95731200-95732600	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr8:95731200-95732600	Active TSS	Fetal Brain Female	brain
41	chr8:95731200-95732600	Active TSS	Fetal Thymus	thymus
42	chr8:95731200-95732800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:95731200-95732800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:95731200-95732800	Active TSS	Brain Anterior Caudate	brain
45	chr8:95731200-95733000	Active TSS	Aorta	Aorta
46	chr8:95731200-95733000	Active TSS	Brain Substantia Nigra	brain
47	chr8:95731200-95733000	Active TSS	Colonic Mucosa	Colon
48	chr8:95731200-95733000	Active TSS	Fetal Lung	lung
49	chr8:95731200-95733000	Active TSS	Psoas Muscle	Psoas
50	chr8:95731200-95733200	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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