Variant report

Variant	rs12289503
Chromosome Location	chr11:93277860-93277861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr11:93277516-93278022	HL-60	blood:	n/a	n/a

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No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:93277841-93277891	Jurkat	blood:	n/a
2	chr11:93277841-93277891	Hepatocyte	liver:	n/a
3	chr11:93277841-93277891	AG09319	gingival:	n/a
4	chr11:93277841-93277891	NHDF-neo	bronchial:	n/a
5	chr11:93277841-93277891	PrEC	prostate:	n/a
6	chr11:93277841-93277891	NB4	blood:	n/a
7	chr11:93277841-93277891	SKMC	muscle:	n/a
8	chr11:93277841-93277891	SK-N-MC	brain:	n/a
9	chr11:93277841-93277891	HRCEpiC	kidney:	n/a
10	chr11:93277841-93277891	HL-60	blood:	n/a
11	chr11:93277841-93277891	HAEpiC	amniotic membrane:	n/a
12	chr11:93277841-93277891	HPAEpiC	pulmonary alveolar:	n/a
13	chr11:93277841-93277891	SK-N-SH_RA	brain:	n/a
14	chr11:93277841-93277891	GM06990	blood:	n/a
15	chr11:93277841-93277891	CMK	blood:	n/a
16	chr11:93277841-93277891	SAEC	small airway:	n/a
17	chr11:93277841-93277891	HNPCEpiC	eye:	n/a
18	chr11:93277841-93277891	SK-N-SH	brain:	n/a
19	chr11:93277841-93277891	ECC-1	luminal epithelium:	n/a
20	chr11:93277841-93277891	Caco-2	colon:	n/a
21	chr11:93277841-93277891	HUVEC	blood vessel:	n/a
22	chr11:93277841-93277891	ovcar-3	ovarian:	n/a
23	chr11:93277841-93277891	HepG2	liver:	n/a
24	chr11:93277841-93277891	AG10803	skin:	n/a
25	chr11:93277841-93277891	IMR90	lung:	fetal
26	chr11:93277841-93277891	HEEpiC	esophagus:	n/a
27	chr11:93277841-93277891	GM12891	blood:	n/a
28	chr11:93277841-93277891	HCPEpiC	choroid plexus:	n/a
29	chr11:93277841-93277891	GM12892	blood:	n/a
30	chr11:93277841-93277891	HEK293	kidney:	embryo
31	chr11:93277841-93277891	NHBE	bronchial:	n/a
32	chr11:93277841-93277891	Hela-S3	cervix:	n/a
33	chr11:93277841-93277891	U87	brain:	n/a
34	chr11:93277841-93277891	HCM	heart:	n/a
35	chr11:93277841-93277891	GM12878	blood:	n/a
36	chr11:93277841-93277891	RPTEC	kidney:	n/a
37	chr11:93277841-93277891	MCF-7	breast:	n/a
38	chr11:93277841-93277891	GM19239	blood:	n/a
39	chr11:93277841-93277891	HIPEpiC	eye:	n/a
40	chr11:93277841-93277891	MCF10A-Er-Src	breast:	n/a
41	chr11:93277841-93277891	PFSK-1	brain:	n/a
42	chr11:93277841-93277891	H1-hESC	embryonic stem cell:	embryo
43	chr11:93277841-93277891	BE2_C	brain:	n/a
44	chr11:93277841-93277891	HCF	heart:	n/a
45	chr11:93277841-93277891	LNCaP	prostate:	n/a
46	chr11:93277841-93277891	HRPEpiC	eye:	n/a
47	chr11:93277841-93277891	HCT-116	colon:	n/a
48	chr11:93277841-93277891	NH-A	brain:	n/a
49	chr11:93277841-93277891	A549	lung:	n/a
50	chr11:93277841-93277891	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93276670..93279805-chr11:93289602..93292268,3	K562	blood:

No data

Variant related genes	Relation type
SMCO4	TF binding region
SMCO4	CpG island
ENSG00000240202	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11020414	1.00[YRI][hapmap]
rs12284824	0.81[AFR][1000 genomes]
rs12289473	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93277000-93278000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr11:93277000-93282000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr11:93277200-93278000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:93277200-93278000	Enhancers	Primary hematopoietic stem cells	blood
5	chr11:93277200-93278000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr11:93277200-93278000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr11:93277200-93278000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr11:93277200-93278000	Enhancers	Fetal Thymus	thymus
9	chr11:93277200-93278000	Enhancers	GM12878-XiMat	blood
10	chr11:93277200-93278000	Enhancers	HUVEC	blood vessel
11	chr11:93277200-93278200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:93277200-93279800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:93277200-93280000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:93277200-93280200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr11:93277200-93281800	Weak transcription	Spleen	Spleen
16	chr11:93277200-93293000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:93277400-93278000	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr11:93277400-93278000	Enhancers	Fetal Intestine Small	intestine
19	chr11:93277400-93278000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr11:93277400-93278000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:93277400-93278000	Enhancers	HepG2	liver
22	chr11:93277400-93278200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr11:93277400-93278200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr11:93277400-93278200	Enhancers	Primary T cells from cord blood	blood
25	chr11:93277400-93278200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:93277400-93278200	Enhancers	Dnd41	blood
27	chr11:93277400-93278600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr11:93277400-93279000	Enhancers	Duodenum Mucosa	Duodenum
29	chr11:93277400-93279800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr11:93277400-93279800	Weak transcription	Placenta	Placenta
31	chr11:93277400-93280000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr11:93277600-93278200	Enhancers	Hela-S3	cervix
33	chr11:93277600-93279200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr11:93277600-93281400	Weak transcription	Fetal Intestine Large	intestine
35	chr11:93277800-93278000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr11:93277800-93278000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr11:93277800-93278200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
38	chr11:93277800-93279200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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