Variant report

Variant	rs11231603
Chromosome Location	chr11:63605663-63605664
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr11:63605643-63608344	IMR90	lung:	n/a	chr11:63606236-63606246 chr11:63606350-63606360
2	MXI1	chr11:63605477-63608478	GM12878	blood:	n/a	n/a
3	MXI1	chr11:63605527-63608524	IMR90	lung:	n/a	n/a
4	MXI1	chr11:63605638-63609646	SK-N-SH	brain:	n/a	n/a
5	STAT1	chr11:63605596-63605787	GM12878	blood:	n/a	n/a
6	MAX	chr11:63605573-63607679	GM12878	blood:	n/a	chr11:63606236-63606246 chr11:63606350-63606360
7	MXI1	chr11:63605619-63607190	HepG2	liver:	n/a	n/a
8	MTA3	chr11:63605630-63606244	GM12878	blood:	n/a	n/a
9	RELA	chr11:63605558-63606581	GM19099	blood:	n/a	n/a
10	ELF1	chr11:63605632-63607871	GM12878	blood:	n/a	chr11:63606906-63606918 chr11:63606279-63606292 chr11:63606690-63606702
11	POLR2A	chr11:63605644-63606304	HUVEC	blood vessel:	n/a	n/a
12	SPI1	chr11:63605116-63605741	HL-60	blood:	n/a	chr11:63605427-63605436 chr11:63605464-63605473 chr11:63605295-63605308 chr11:63605425-63605438
13	POLR2A	chr11:63604511-63606793	GM12891	blood:	n/a	n/a
14	RELA	chr11:63605609-63606583	GM18951	blood:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63534532..63537273-chr11:63602993..63606665,6	K562	blood:
2	chr11:63604982..63606649-chr11:63633551..63637040,3	K562	blood:
3	chr11:63605440..63606175-chr11:63915823..63916701,2	K562	blood:
4	chr11:63603650..63606270-chr11:63705616..63707256,2	MCF-7	breast:
5	chr11:63535469..63537285-chr11:63604590..63607809,3	MCF-7	breast:
6	chr11:63535254..63537273-chr11:63604196..63606665,2	K562	blood:
7	chr11:63598165..63599939-chr11:63604514..63606107,2	MCF-7	breast:
8	chr11:63597538..63602989-chr11:63603448..63608044,6	K562	blood:
9	chr11:63605131..63609420-chr11:63682910..63687369,4	MCF-7	breast:
10	chr11:63604963..63609785-chr11:63634052..63642181,26	MCF-7	breast:
11	chr11:63603311..63612666-chr11:63664740..63679491,25	MCF-7	breast:
12	chr11:63605255..63608067-chr11:63752037..63753673,2	MCF-7	breast:
13	chr11:63604824..63606885-chr11:63683071..63686195,3	K562	blood:
14	chr11:63605595..63608737-chr11:63952425..63954944,4	MCF-7	breast:
15	chr11:63579552..63584409-chr11:63604789..63609677,6	K562	blood:
16	chr11:63605631..63608231-chr11:63683000..63685015,3	MCF-7	breast:
17	chr11:63604047..63606273-chr11:63618299..63619902,2	K562	blood:
18	chr11:63603344..63615182-chr11:63634321..63647771,46	MCF-7	breast:
19	chr11:63601754..63603503-chr11:63603668..63606270,2	K562	blood:
20	chr11:63604248..63606622-chr11:63634947..63637040,3	K562	blood:
21	chr11:63605094..63609854-chr11:63611414..63617957,11	K562	blood:
22	chr11:63579552..63583589-chr11:63604564..63608557,6	K562	blood:
23	chr11:63536047..63538392-chr11:63603133..63607498,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256280	TF binding region
MARK2	TF binding region
ENSG00000072518	Chromatin interaction
ENSG00000255651	Chromatin interaction
ENSG00000168005	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000256280	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000167771	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10897465	1.00[YRI][hapmap]
rs11231599	1.00[LWK][hapmap]
rs11231662	1.00[YRI][hapmap]
rs11231664	1.00[YRI][hapmap]
rs11231666	1.00[AFR][1000 genomes]
rs11231670	1.00[YRI][hapmap]
rs11605797	1.00[YRI][hapmap]
rs12786124	1.00[YRI][hapmap]
rs12800703	1.00[YRI][hapmap]
rs449047	1.00[YRI][hapmap]
rs454474	1.00[YRI][hapmap]
rs492357	1.00[YRI][hapmap]
rs4980499	1.00[YRI][hapmap]
rs4980500	1.00[YRI][hapmap]
rs504060	1.00[YRI][hapmap]
rs509701	1.00[YRI][hapmap]
rs72916390	1.00[AFR][1000 genomes]
rs72934177	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 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	chr11:63593000-63606400	Weak transcription	Aorta	Aorta
2	chr11:63594600-63606400	Weak transcription	Ovary	ovary
3	chr11:63596800-63605800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:63600400-63605800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:63603800-63605800	Enhancers	Brain Germinal Matrix	brain
6	chr11:63604400-63605800	Enhancers	Primary B cells from peripheral blood	blood
7	chr11:63604400-63605800	Enhancers	Brain Anterior Caudate	brain
8	chr11:63604400-63605800	Enhancers	Fetal Intestine Small	intestine
9	chr11:63604400-63605800	Enhancers	Gastric	stomach
10	chr11:63604600-63605800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr11:63604600-63605800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:63604600-63605800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr11:63604600-63605800	Enhancers	Brain Substantia Nigra	brain
14	chr11:63604600-63605800	Enhancers	Fetal Brain Male	brain
15	chr11:63604600-63605800	Enhancers	Fetal Heart	heart
16	chr11:63604600-63605800	Enhancers	Fetal Kidney	kidney
17	chr11:63604600-63605800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr11:63604600-63606000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr11:63604600-63606200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:63604600-63606200	Enhancers	Pancreas	Pancrea
21	chr11:63604600-63606200	Enhancers	Stomach Mucosa	stomach
22	chr11:63604800-63605800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr11:63604800-63605800	Enhancers	Fetal Muscle Leg	muscle
24	chr11:63604800-63605800	Enhancers	Placenta	Placenta
25	chr11:63604800-63605800	Enhancers	Fetal Thymus	thymus
26	chr11:63604800-63606000	Flanking Active TSS	HepG2	liver
27	chr11:63604800-63606200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:63604800-63606200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr11:63604800-63606200	Enhancers	Spleen	Spleen
30	chr11:63605000-63605800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:63605000-63605800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr11:63605000-63605800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr11:63605000-63605800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr11:63605000-63605800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr11:63605000-63605800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:63605000-63605800	Enhancers	Liver	Liver
37	chr11:63605000-63605800	Enhancers	Brain Cingulate Gyrus	brain
38	chr11:63605000-63605800	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr11:63605000-63605800	Enhancers	Fetal Lung	lung
40	chr11:63605000-63605800	Enhancers	Fetal Stomach	stomach
41	chr11:63605000-63605800	Enhancers	Thymus	Thymus
42	chr11:63605000-63605800	Enhancers	A549	lung
43	chr11:63605000-63605800	Enhancers	NHLF	lung
44	chr11:63605000-63606000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:63605000-63606000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:63605000-63606000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:63605000-63606000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr11:63605000-63606000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:63605000-63606000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:63605000-63606000	Flanking Active TSS	Rectal Smooth Muscle	rectum

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