Variant report

Variant	rs360130
Chromosome Location	chr11:9810079-9810080
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr11:9809229-9810180	SK-N-SH	brain:	n/a	chr11:9809593-9809600
2	REST	chr11:9809256-9810103	PFSK-1	brain:	n/a	chr11:9809374-9809392
3	POLR2A	chr11:9809758-9810195	HL-60	blood:	n/a	n/a
4	EP300	chr11:9809450-9810124	SK-N-SH_RA	brain:	n/a	n/a
5	RCOR1	chr11:9809217-9810219	IMR90	lung:	n/a	n/a
6	TEAD4	chr11:9809365-9810249	SK-N-SH	brain:	n/a	n/a
7	MAX	chr11:9809295-9810121	SK-N-SH	brain:	n/a	chr11:9809738-9809747
8	PBX3	chr11:9809291-9810174	SK-N-SH	brain:	n/a	n/a
9	TEAD4	chr11:9809289-9810241	SK-N-SH	brain:	n/a	n/a
10	MEF2A	chr11:9809427-9810191	SK-N-SH	brain:	n/a	n/a
11	RXRA	chr11:9809313-9810163	SK-N-SH	brain:	n/a	chr11:9809606-9809622
12	POLR2A	chr11:9809558-9810229	U87	brain:	n/a	n/a
13	NFIC	chr11:9809260-9810245	SK-N-SH	brain:	n/a	n/a
14	EP300	chr11:9809249-9810226	SK-N-SH	brain:	n/a	n/a
15	RXRA	chr11:9809273-9810193	SK-N-SH	brain:	n/a	chr11:9809606-9809622
16	FOSL2	chr11:9809456-9810144	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr11:9809722-9810145	U87	brain:	n/a	n/a
18	EP300	chr11:9809407-9810143	SK-N-SH_RA	brain:	n/a	n/a
19	GATA3	chr11:9808762-9810226	SK-N-SH	brain:	n/a	chr11:9809593-9809600
20	EP300	chr11:9809275-9810180	SK-N-SH	brain:	n/a	n/a
21	JUND	chr11:9809367-9810220	SK-N-SH	brain:	n/a	n/a
22	NFIC	chr11:9809286-9810137	SK-N-SH	brain:	n/a	n/a
23	TCF12	chr11:9808762-9810365	SK-N-SH	brain:	n/a	chr11:9809764-9809774 chr11:9809780-9809790 chr11:9809436-9809444
24	POLR2A	chr11:9809723-9810170	HL-60	blood:	n/a	n/a
25	FOSL2	chr11:9809378-9810141	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr11:9809370-9810164	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr11:9809681-9810110	U87	brain:	n/a	n/a
28	TCF12	chr11:9809196-9810260	SK-N-SH	brain:	n/a	chr11:9809764-9809774 chr11:9809780-9809790 chr11:9809436-9809444
29	MAX	chr11:9809421-9810163	SK-N-SH	brain:	n/a	chr11:9809738-9809747
30	POLR2A	chr11:9809461-9810085	SK-N-SH	brain:	n/a	n/a
31	PBX3	chr11:9809320-9810185	SK-N-SH	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:9810051-9810101	GM19239	blood:	n/a
2	chr11:9810051-9810101	GM06990	blood:	n/a
3	chr11:9810051-9810101	ECC-1	luminal epithelium:	n/a
4	chr11:9810051-9810101	BJ	skin:	n/a
5	chr11:9810051-9810101	HIPEpiC	eye:	n/a
6	chr11:9810051-9810101	HUVEC	blood vessel:	n/a
7	chr11:9810051-9810101	HCPEpiC	choroid plexus:	n/a
8	chr11:9810051-9810101	HCF	heart:	n/a
9	chr11:9810051-9810101	HPAEpiC	pulmonary alveolar:	n/a
10	chr11:9810051-9810101	MCF-7	breast:	n/a
11	chr11:9810051-9810101	RPTEC	kidney:	n/a
12	chr11:9810051-9810101	HCT-116	colon:	n/a
13	chr11:9810051-9810101	U87	brain:	n/a
14	chr11:9810051-9810101	SKMC	muscle:	n/a
15	chr11:9810051-9810101	HRPEpiC	eye:	n/a
16	chr11:9810051-9810101	AG09319	gingival:	n/a
17	chr11:9810051-9810101	PFSK-1	brain:	n/a
18	chr11:9810051-9810101	H1-hESC	embryonic stem cell:	embryo
19	chr11:9810051-9810101	IMR90	lung:	fetal
20	chr11:9810051-9810101	AG10803	skin:	n/a
21	chr11:9810051-9810101	SAEC	small airway:	n/a
22	chr11:9810051-9810101	BE2_C	brain:	n/a
23	chr11:9810051-9810101	A549	lung:	n/a
24	chr11:9810051-9810101	HNPCEpiC	eye:	n/a
25	chr11:9810051-9810101	PrEC	prostate:	n/a
26	chr11:9810051-9810101	Jurkat	blood:	n/a
27	chr11:9810051-9810101	AG09309	skin:	n/a
28	chr11:9810051-9810101	NB4	blood:	n/a
29	chr11:9810051-9810101	AoSMC	blood vessel:	n/a
30	chr11:9810051-9810101	SK-N-SH	brain:	n/a
31	chr11:9810051-9810101	HepG2	liver:	n/a
32	chr11:9810051-9810101	NT2-D1	testis:	n/a
33	chr11:9810051-9810101	AG04450	lung:	fetal
34	chr11:9810051-9810101	NHBE	bronchial:	n/a
35	chr11:9810051-9810101	GM12878	blood:	n/a
36	chr11:9810051-9810101	HCM	heart:	n/a
37	chr11:9810051-9810101	HL-60	blood:	n/a
38	chr11:9810051-9810101	HRCEpiC	kidney:	n/a
39	chr11:9810051-9810101	NH-A	brain:	n/a
40	chr11:9810051-9810101	Caco-2	colon:	n/a
41	chr11:9810051-9810101	Hela-S3	cervix:	n/a
42	chr11:9810051-9810101	LNCaP	prostate:	n/a
43	chr11:9810051-9810101	T-47D	breast:	n/a
44	chr11:9810051-9810101	HRE	kidney:	n/a
45	chr11:9810051-9810101	K562	blood:	n/a
46	chr11:9810051-9810101	ProgFib	skin:	n/a
47	chr11:9810051-9810101	HEK293	kidney:	embryo
48	chr11:9810051-9810101	MCF10A-Er-Src	breast:	n/a
49	chr11:9810051-9810101	HEEpiC	esophagus:	n/a
50	chr11:9810051-9810101	PANC-1	pancreas:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9807438..9810264-chr11:10314419..10316538,2	MCF-7	breast:

No data

Variant related genes	Relation type
SBF2	TF binding region
SBF2	CpG island
ENSG00000133812	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10118	0.91[ASN][1000 genomes]
rs10770062	0.95[ASN][1000 genomes]
rs1392026	0.92[ASN][1000 genomes]
rs183110	0.98[ASN][1000 genomes]
rs1875030	0.90[ASN][1000 genomes]
rs2173030	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2645017	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2645029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs360120	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs360124	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs360127	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs360129	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs360131	0.98[ASN][1000 genomes]
rs360132	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs360141	0.91[ASN][1000 genomes]
rs360142	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs360143	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs360146	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs360150	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs360151	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs380806	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs391304	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs394315	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs432849	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs438151	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs446760	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs472487	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs634680	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6483726	0.84[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	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv896987	chr11:9759918-9885849	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv3384280	chr11:9766350-9911228	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9780600-9813200	Weak transcription	Small Intestine	intestine
2	chr11:9795200-9812800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr11:9797400-9821800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:9797800-9811800	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:9798200-9810400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr11:9798600-9811600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:9799200-9812000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:9799200-9812200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:9799600-9810600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:9799600-9823400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:9799800-9811600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:9799800-9812000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:9799800-9812200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:9799800-9812200	Strong transcription	Liver	Liver
15	chr11:9799800-9814200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:9800200-9823800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:9801600-9823800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr11:9802600-9810600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:9802800-9810200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:9803000-9823400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:9803000-9823400	Weak transcription	Psoas Muscle	Psoas
22	chr11:9803200-9811400	Weak transcription	Brain Substantia Nigra	brain
23	chr11:9803200-9828600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:9803200-9828600	Weak transcription	Gastric	stomach
25	chr11:9803200-9828800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr11:9803400-9811200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:9804600-9812000	Strong transcription	Fetal Lung	lung
28	chr11:9804800-9810200	Strong transcription	Primary T cells from cord blood	blood
29	chr11:9804800-9811800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:9804800-9811800	Strong transcription	Fetal Intestine Small	intestine
31	chr11:9804800-9811800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr11:9804800-9812000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:9805000-9811000	Strong transcription	Brain Cingulate Gyrus	brain
34	chr11:9805000-9811600	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr11:9805000-9811600	Strong transcription	Fetal Brain Female	brain
36	chr11:9805000-9811800	Strong transcription	Thymus	Thymus
37	chr11:9805000-9812200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:9805000-9812800	Strong transcription	HepG2	liver
39	chr11:9805000-9815600	Strong transcription	Fetal Intestine Large	intestine
40	chr11:9805200-9811800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:9805200-9815600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:9806200-9810800	Strong transcription	Duodenum Mucosa	Duodenum
43	chr11:9806800-9821400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:9806800-9828600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr11:9807200-9823200	Weak transcription	Fetal Heart	heart
46	chr11:9807800-9810600	Weak transcription	Primary B cells from cord blood	blood
47	chr11:9807800-9811800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr11:9807800-9811800	Strong transcription	Ovary	ovary
49	chr11:9807800-9811800	Strong transcription	NHEK	skin
50	chr11:9808000-9810800	Strong transcription	H1 Cell Line	embryonic stem cell

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