Variant report

Variant	rs7930907
Chromosome Location	chr11:73309421-73309422
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	CTCF	chr11:73308933-73309986	K562	blood:	n/a	n/a
2	BRCA1	chr11:73309205-73309714	GM12878	blood:	n/a	n/a
3	EGR1	chr11:73309023-73309809	K562	blood:	n/a	chr11:73309708-73309732 chr11:73309535-73309545 chr11:73309194-73309208 chr11:73309535-73309546 chr11:73309533-73309548 chr11:73309529-73309551 chr11:73309211-73309221 chr11:73309534-73309547 chr11:73309535-73309545 chr11:73309533-73309547 chr11:73309618-73309642 chr11:73309293-73309317 chr11:73309534-73309547 chr11:73309531-73309545
4	ELF1	chr11:73309085-73310028	A549	lung:	n/a	n/a
5	CHD2	chr11:73308835-73310111	H1-hESC	embryonic stem cell:	n/a	chr11:73309338-73309348 chr11:73308857-73308867 chr11:73309526-73309536 chr11:73309162-73309172
6	MXI1	chr11:73308854-73309859	HepG2	liver:	n/a	n/a
7	TAF1	chr11:73308930-73309929	SK-N-SH	brain:	n/a	n/a
8	MAX	chr11:73308847-73309986	SK-N-SH	brain:	n/a	chr11:73309532-73309542 chr11:73308946-73308956
9	FOXA1	chr11:73309403-73309802	T-47D	breast:	n/a	n/a
10	KAP1	chr11:73309167-73310282	HEK293	kidney:	n/a	n/a
11	ETS1	chr11:73309028-73309930	GM12878	blood:	n/a	chr11:73309681-73309694 chr11:73309332-73309345 chr11:73309617-73309630 chr11:73309526-73309537 chr11:73309292-73309305 chr11:73309618-73309631 chr11:73309720-73309733 chr11:73309297-73309304
12	POLR2A	chr11:73308969-73309898	K562	blood:	n/a	n/a
13	MAX	chr11:73309133-73309828	HepG2	liver:	n/a	chr11:73309532-73309542
14	TCF12	chr11:73309374-73309869	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr11:73309062-73309476	K562	blood:	n/a	n/a
16	POLR2A	chr11:73309298-73309945	GM12891	blood:	n/a	n/a
17	POLR2A	chr11:73308879-73309944	GM10847	blood:	n/a	n/a
18	SMC3	chr11:73308911-73309921	Hela-S3	cervix:	n/a	n/a
19	YY1	chr11:73308931-73310115	SK-N-SH_RA	brain:	n/a	chr11:73309246-73309260 chr11:73308992-73309001 chr11:73308992-73309006 chr11:73309333-73309347 chr11:73309524-73309535 chr11:73309367-73309381 chr11:73308993-73309004 chr11:73308995-73309004
20	POLR2A	chr11:73308947-73309431	A549	lung:	n/a	n/a
21	PML	chr11:73308749-73310062	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:73309142-73309936	HUVEC	blood vessel:	n/a	n/a
23	GABPA	chr11:73308814-73309957	K562	blood:	n/a	chr11:73309533-73309542 chr11:73309084-73309093 chr11:73309246-73309260
24	SIN3AK20	chr11:73308905-73309980	SK-N-SH	brain:	n/a	n/a
25	RUNX3	chr11:73308758-73309996	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:73308911-73309998	HEK293	kidney:	n/a	n/a
27	ARID3A	chr11:73309122-73309835	HepG2	liver:	n/a	n/a
28	GABPA	chr11:73308983-73310059	SK-N-SH	brain:	n/a	chr11:73309533-73309542 chr11:73309084-73309093 chr11:73309246-73309260
29	BHLHE40	chr11:73308999-73309937	K562	blood:	n/a	chr11:73309170-73309186 chr11:73309347-73309363
30	ETS1	chr11:73308999-73310022	A549	lung:	n/a	chr11:73309681-73309694 chr11:73309332-73309345 chr11:73309617-73309630 chr11:73309526-73309537 chr11:73309292-73309305 chr11:73309618-73309631 chr11:73309720-73309733 chr11:73309297-73309304
31	EP300	chr11:73309110-73309903	HepG2	liver:	n/a	chr11:73309249-73309258 chr11:73309755-73309769
32	BCLAF1	chr11:73308865-73309957	GM12878	blood:	n/a	chr11:73308993-73309002 chr11:73309760-73309769 chr11:73308995-73309008 chr11:73309338-73309351 chr11:73309175-73309188 chr11:73308996-73309005 chr11:73308992-73309005 chr11:73308991-73309004
33	CTCF	chr11:73308912-73309651	GM12878	blood:	n/a	n/a
34	UBTF	chr11:73308912-73310053	K562	blood:	n/a	n/a
35	EGR1	chr11:73308963-73309998	ECC-1	luminal epithelium:	n/a	chr11:73309708-73309732 chr11:73309535-73309545 chr11:73309194-73309208 chr11:73309535-73309546 chr11:73309533-73309548 chr11:73309529-73309551 chr11:73309211-73309221 chr11:73309534-73309547 chr11:73309535-73309545 chr11:73309533-73309547 chr11:73309618-73309642 chr11:73309293-73309317 chr11:73309534-73309547 chr11:73309531-73309545
36	POLR2A	chr11:73308897-73309913	A549	lung:	n/a	n/a
37	POLR2A	chr11:73309230-73309852	GM12892	blood:	n/a	n/a
38	TBP	chr11:73309162-73310142	GM12878	blood:	n/a	n/a
39	POLR2A	chr11:73308955-73310134	HepG2	liver:	n/a	n/a
40	ELF1	chr11:73309073-73309487	HepG2	liver:	n/a	n/a
41	POLR2A	chr11:73308887-73309955	GM15510	blood:	n/a	n/a
42	PML	chr11:73309227-73309855	GM12878	blood:	n/a	n/a
43	TCF7L2	chr11:73309331-73309879	PANC-1	pancreas:	n/a	n/a
44	CREB1	chr11:73308824-73310153	GM12878	blood:	n/a	n/a
45	TEAD4	chr11:73308914-73310042	K562	blood:	n/a	n/a
46	YY1	chr11:73308803-73310029	GM12878	blood:	n/a	chr11:73309246-73309260 chr11:73308992-73309001 chr11:73308992-73309006 chr11:73309333-73309347 chr11:73309524-73309535 chr11:73309367-73309381 chr11:73308907-73308921 chr11:73308993-73309004 chr11:73308995-73309004
47	GABPA	chr11:73308998-73310103	MCF-7	breast:	n/a	chr11:73309533-73309542 chr11:73309084-73309093 chr11:73309246-73309260
48	ELF1	chr11:73309218-73309863	HepG2	liver:	n/a	n/a
49	POLR2A	chr11:73309091-73310172	MCF10A-Er-Src	breast:	n/a	n/a
50	TAF1	chr11:73309071-73310028	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:73309413-73309463	AG10803	skin:	n/a
2	chr11:73309413-73309463	GM12892	blood:	n/a
3	chr11:73309413-73309463	SK-N-SH_RA	brain:	n/a
4	chr11:73309413-73309463	NHDF-neo	bronchial:	n/a
5	chr11:73309413-73309463	HRPEpiC	eye:	n/a
6	chr11:73309413-73309463	HNPCEpiC	eye:	n/a
7	chr11:73309413-73309463	SKMC	muscle:	n/a
8	chr11:73309413-73309463	RPTEC	kidney:	n/a
9	chr11:73309413-73309463	U87	brain:	n/a
10	chr11:73309413-73309463	ovcar-3	ovarian:	n/a
11	chr11:73309413-73309463	HCM	heart:	n/a
12	chr11:73309413-73309463	GM19239	blood:	n/a
13	chr11:73309413-73309463	HUVEC	blood vessel:	n/a
14	chr11:73309413-73309463	NH-A	brain:	n/a
15	chr11:73309413-73309463	LNCaP	prostate:	n/a
16	chr11:73309413-73309463	SK-N-MC	brain:	n/a
17	chr11:73309413-73309463	HRCEpiC	kidney:	n/a
18	chr11:73309413-73309463	HEK293	kidney:	embryo
19	chr11:73309413-73309463	BJ	skin:	n/a
20	chr11:73309413-73309463	Hepatocyte	liver:	n/a
21	chr11:73309413-73309463	MCF10A-Er-Src	breast:	n/a
22	chr11:73309413-73309463	T-47D	breast:	n/a
23	chr11:73309413-73309463	GM12891	blood:	n/a
24	chr11:73309413-73309463	A549	lung:	n/a
25	chr11:73309413-73309463	AG04450	lung:	fetal
26	chr11:73309413-73309463	HIPEpiC	eye:	n/a
27	chr11:73309413-73309463	HRE	kidney:	n/a
28	chr11:73309413-73309463	K562	blood:	n/a
29	chr11:73309413-73309463	NHBE	bronchial:	n/a
30	chr11:73309413-73309463	Hela-S3	cervix:	n/a
31	chr11:73309413-73309463	HCT-116	colon:	n/a
32	chr11:73309413-73309463	SAEC	small airway:	n/a
33	chr11:73309413-73309463	HCPEpiC	choroid plexus:	n/a
34	chr11:73309413-73309463	NB4	blood:	n/a
35	chr11:73309413-73309463	PrEC	prostate:	n/a
36	chr11:73309413-73309463	HepG2	liver:	n/a
37	chr11:73309413-73309463	HEEpiC	esophagus:	n/a
38	chr11:73309413-73309463	PFSK-1	brain:	n/a
39	chr11:73309413-73309463	GM06990	blood:	n/a
40	chr11:73309413-73309463	HL-60	blood:	n/a
41	chr11:73309413-73309463	AG09309	skin:	n/a
42	chr11:73309413-73309463	IMR90	lung:	fetal
43	chr11:73309413-73309463	HPAEpiC	pulmonary alveolar:	n/a
44	chr11:73309413-73309463	MCF-7	breast:	n/a
45	chr11:73309413-73309463	HCF	heart:	n/a
46	chr11:73309413-73309463	BE2_C	brain:	n/a
47	chr11:73309413-73309463	CMK	blood:	n/a
48	chr11:73309413-73309463	NT2-D1	testis:	n/a
49	chr11:73309413-73309463	HMEC	breast:	n/a
50	chr11:73309413-73309463	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73307696..73311155-chr11:73356118..73358808,4	MCF-7	breast:
2	chr11:73309145..73309670-chr8:143484529..143485324,2	HCT-116	colon:
3	chr11:73289699..73292318-chr11:73308150..73310462,2	K562	blood:
4	chr11:73309401..73311086-chr11:73354821..73356698,2	MCF-7	breast:
5	chr11:73309124..73309770-chr12:89746078..89746676,2	NB4	blood:
6	chr11:73309307..73309906-chr2:202290..202790,2	Hela-S3	cervix:
7	chr11:73308527..73310864-chr11:73370877..73373752,3	MCF-7	breast:

Variant related genes	Relation type
FAM168A	TF binding region
FAM168A	CpG island
ENSG00000261693	Chromatin interaction
ENSG00000171045	Chromatin interaction
ENSG00000231726	Chromatin interaction
ENSG00000139318	Chromatin interaction
ENSG00000021300	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10751226	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17244596	0.80[AFR][1000 genomes]
rs17244602	0.88[AFR][1000 genomes]
rs17244616	0.84[AFR][1000 genomes]
rs17310374	0.88[AFR][1000 genomes]
rs4433590	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56742470	0.88[AFR][1000 genomes]
rs56857598	0.88[AFR][1000 genomes]
rs56884659	0.88[AFR][1000 genomes]
rs57491850	0.84[AFR][1000 genomes]
rs57673166	0.88[AFR][1000 genomes]
rs58564192	0.88[AFR][1000 genomes]
rs7115055	0.88[AFR][1000 genomes]
rs7118057	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129546	0.88[AFR][1000 genomes]
rs724111	0.88[AFR][1000 genomes]
rs73544783	0.88[AFR][1000 genomes]
rs73546720	0.88[AFR][1000 genomes]
rs73548680	0.88[AFR][1000 genomes]
rs73548688	0.92[AFR][1000 genomes]
rs73548693	0.84[AFR][1000 genomes]
rs73550316	0.92[AFR][1000 genomes]
rs7930152	0.88[AFR][1000 genomes]
rs7931767	0.88[AFR][1000 genomes]
rs7943721	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945825	0.84[AFR][1000 genomes]
rs7950375	0.92[AFR][1000 genomes]
rs7951072	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS 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 target site	85 gene(s)	inside rSNPs	diseases
4	esv3384593	chr11:73307854-73310302	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 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	chr11:73307400-73310200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:73307800-73310400	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:73307800-73310400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr11:73308000-73310200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:73308000-73310400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:73308200-73309800	Active TSS	Fetal Brain Female	brain
7	chr11:73308200-73310200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr11:73308200-73310200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:73308200-73310200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:73308200-73310400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr11:73308400-73309800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:73308400-73309800	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr11:73308400-73310000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:73308400-73310000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:73308400-73310000	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr11:73308400-73310000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:73308400-73310000	Active TSS	Aorta	Aorta
18	chr11:73308400-73310000	Active TSS	Small Intestine	intestine
19	chr11:73308400-73310000	Bivalent/Poised TSS	HepG2	liver
20	chr11:73308400-73310200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:73308400-73310200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:73308400-73310200	Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr11:73308400-73310200	Active TSS	Brain Germinal Matrix	brain
24	chr11:73308400-73310200	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr11:73308400-73310200	Active TSS	NHDF-Ad	bronchial
26	chr11:73308400-73310200	Active TSS	NHLF	lung
27	chr11:73308400-73310400	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr11:73308400-73310400	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr11:73308400-73310400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:73308400-73310400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:73308400-73310400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:73308400-73310400	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr11:73308400-73310400	Active TSS	Psoas Muscle	Psoas
34	chr11:73308400-73310400	Active TSS	HSMMtube	muscle
35	chr11:73308400-73311000	Active TSS	GM12878-XiMat	blood
36	chr11:73308600-73309600	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr11:73308600-73309600	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr11:73308600-73309800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:73308600-73309800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:73308600-73309800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:73308600-73309800	Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr11:73308600-73309800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:73308600-73309800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr11:73308600-73309800	Active TSS	Fetal Lung	lung
45	chr11:73308600-73309800	Active TSS	Hela-S3	cervix
46	chr11:73308600-73309800	Active TSS	HUVEC	blood vessel
47	chr11:73308600-73309800	Active TSS	Monocytes-CD14+_RO01746	blood
48	chr11:73308600-73309800	Active TSS	NH-A	brain
49	chr11:73308600-73310000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:73308600-73310000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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