Variant report

Variant	rs11231630
Chromosome Location	chr11:63655710-63655711
allele	C/T
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	MAZ	chr11:63655557-63656463	K562	blood:	n/a	n/a
2	POLR2A	chr11:63655701-63656298	GM18951	blood:	n/a	n/a
3	GABPA	chr11:63655661-63656213	K562	blood:	n/a	n/a
4	TBL1XR1	chr11:63655632-63656088	K562	blood:	n/a	n/a
5	SIN3AK20	chr11:63655693-63656048	H1-hESC	embryonic stem cell:	n/a	n/a
6	ELF1	chr11:63655539-63656418	K562	blood:	n/a	chr11:63655949-63655960 chr11:63655948-63655961 chr11:63655949-63655960 chr11:63656304-63656316 chr11:63655950-63655959
7	ELF1	chr11:63655660-63656190	MCF-7	breast:	n/a	chr11:63655949-63655960 chr11:63655948-63655961 chr11:63655949-63655960 chr11:63655950-63655959
8	ELF1	chr11:63655598-63656305	MCF-7	breast:	n/a	chr11:63655949-63655960 chr11:63655948-63655961 chr11:63655949-63655960 chr11:63655950-63655959
9	FOS	chr11:63655597-63655864	MCF10A-Er-Src	breast:	n/a	chr11:63655769-63655777
10	ETS1	chr11:63655637-63656145	K562	blood:	n/a	chr11:63655949-63655958 chr11:63656087-63656098 chr11:63655947-63655958 chr11:63655949-63655958 chr11:63655947-63655957 chr11:63655961-63655972 chr11:63655967-63655978
11	EGR1	chr11:63655589-63655911	K562	blood:	n/a	chr11:63655714-63655727 chr11:63655713-63655728
12	HCFC1	chr11:63655640-63656287	K562	blood:	n/a	n/a
13	SIN3AK20	chr11:63655691-63656147	K562	blood:	n/a	n/a
14	TAF1	chr11:63655700-63656241	K562	blood:	n/a	n/a
15	MTA3	chr11:63655648-63656189	GM12878	blood:	n/a	n/a
16	JUND	chr11:63655571-63656278	K562	blood:	n/a	chr11:63655769-63655777
17	SIN3A	chr11:63655617-63656260	H1-hESC	embryonic stem cell:	n/a	n/a
18	EGR1	chr11:63655497-63656399	K562	blood:	n/a	chr11:63655714-63655727 chr11:63655949-63655958 chr11:63655713-63655728 chr11:63655964-63655977
19	MAFK	chr11:63655617-63655892	IMR90	lung:	n/a	chr11:63655754-63655770 chr11:63655701-63655716 chr11:63655759-63655770 chr11:63655759-63655770
20	ELF1	chr11:63655603-63656452	GM12878	blood:	n/a	chr11:63655949-63655960 chr11:63655948-63655961 chr11:63655949-63655960 chr11:63656304-63656316 chr11:63655950-63655959
21	MAZ	chr11:63655608-63656174	GM12878	blood:	n/a	n/a
22	SPI1	chr11:63655413-63656438	HL-60	blood:	n/a	n/a
23	MAX	chr11:63655530-63656466	K562	blood:	n/a	n/a
24	MAX	chr11:63655633-63655901	K562	blood:	n/a	n/a
25	MAX	chr11:63655684-63655831	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:63655577-63656426	K562	blood:	n/a	n/a
27	POLR2A	chr11:63655690-63656314	K562	blood:	n/a	n/a
28	POLR2A	chr11:63655645-63656288	GM12892	blood:	n/a	n/a
29	NR2F2	chr11:63655638-63656163	K562	blood:	n/a	n/a
30	POLR2A	chr11:63655674-63657151	MCF10A-Er-Src	breast:	n/a	n/a
31	ZBTB7A	chr11:63655617-63656153	K562	blood:	n/a	n/a
32	POLR2A	chr11:63655032-63656617	HepG2	liver:	n/a	n/a
33	MAX	chr11:63654901-63656419	NB4	blood:	n/a	n/a
34	MYC	chr11:63655671-63656251	MCF10A-Er-Src	breast:	n/a	n/a
35	GABPA	chr11:63655610-63656439	K562	blood:	n/a	n/a
36	SIN3A	chr11:63655654-63655906	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:63655600-63656519	HL-60	blood:	n/a	n/a
38	SIN3AK20	chr11:63655564-63656622	MCF-7	breast:	n/a	n/a
39	FOS	chr11:63655515-63655925	MCF10A-Er-Src	breast:	n/a	chr11:63655769-63655777
40	RUNX3	chr11:63655541-63656339	GM12878	blood:	n/a	n/a
41	GABPA	chr11:63655670-63656270	MCF-7	breast:	n/a	n/a
42	POLR2A	chr11:63655628-63656380	K562	blood:	n/a	n/a
43	TEAD4	chr11:63655009-63656251	K562	blood:	n/a	chr11:63655606-63655615
44	POLR2A	chr11:63655621-63656188	ECC-1	luminal epithelium:	n/a	n/a
45	FOS	chr11:63655617-63656244	MCF10A-Er-Src	breast:	n/a	chr11:63655769-63655777
46	RCOR1	chr11:63655617-63656273	K562	blood:	n/a	n/a
47	ZEB1	chr11:63655607-63656077	GM12878	blood:	n/a	chr11:63655847-63655856 chr11:63655848-63655855
48	MYC	chr11:63655645-63656380	K562	blood:	n/a	n/a
49	MYC	chr11:63655581-63656391	NB4	blood:	n/a	n/a
50	RUNX3	chr11:63655560-63656333	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63580299..63582440-chr11:63655697..63658299,3	K562	blood:
2	chr11:63655390..63658583-chr11:63705235..63708313,3	K562	blood:
3	chr11:63654599..63657425-chr11:63952225..63954812,2	K562	blood:
4	chr11:63653210..63656003-chr11:63665435..63667701,2	MCF-7	breast:
5	chr11:63604628..63605373-chr11:63655293..63655881,2	K562	blood:
6	chr11:63581060..63583015-chr11:63654229..63655873,2	MCF-7	breast:
7	chr11:63655513..63657526-chr11:63661698..63663347,2	MCF-7	breast:

Variant related genes	Relation type
MARK2	TF binding region
ENSG00000168005	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000168439	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10897457	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231605	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231615	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231619	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231620	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231621	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11231631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231674	1.00[CHB][hapmap]
rs1188017	1.00[CHB][hapmap]
rs3850942	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530399	1.00[CHB][hapmap]
rs540741	1.00[CHB][hapmap]
rs61886103	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886104	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886106	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886131	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886132	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886133	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61886134	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933791	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949291	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952270	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs947843	1.00[CHB][hapmap]
rs958333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9735314	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
4	esv1839119	chr11:63615554-63680052	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 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	chr11:63643600-63655800	Weak transcription	Aorta	Aorta
2	chr11:63650800-63656000	Weak transcription	Brain Germinal Matrix	brain
3	chr11:63650800-63657600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:63652000-63659600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:63652200-63659400	Weak transcription	Fetal Brain Female	brain
6	chr11:63653600-63655800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:63653800-63656000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:63653800-63656000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:63654200-63656000	Enhancers	Brain Hippocampus Middle	brain
10	chr11:63654200-63656000	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr11:63654200-63656400	Enhancers	A549	lung
12	chr11:63654200-63658000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:63654200-63658400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr11:63654400-63655800	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr11:63654400-63655800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:63654400-63655800	Enhancers	Right Ventricle	heart
17	chr11:63654400-63656000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:63654400-63656000	Enhancers	Colon Smooth Muscle	Colon
19	chr11:63654400-63656000	Enhancers	Fetal Heart	heart
20	chr11:63654400-63656200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:63654400-63656200	Enhancers	Primary hematopoietic stem cells	blood
22	chr11:63654400-63656200	Enhancers	Spleen	Spleen
23	chr11:63654400-63656400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr11:63654400-63656600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr11:63654400-63656800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr11:63654400-63656800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:63654400-63656800	Enhancers	Psoas Muscle	Psoas
28	chr11:63654400-63657200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:63654400-63657200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:63654400-63657200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr11:63654400-63657800	Enhancers	Brain Substantia Nigra	brain
32	chr11:63654400-63658200	Enhancers	Lung	lung
33	chr11:63654400-63659000	Enhancers	Brain Angular Gyrus	brain
34	chr11:63654600-63655800	Enhancers	Brain Cingulate Gyrus	brain
35	chr11:63654600-63655800	Enhancers	NHDF-Ad	bronchial
36	chr11:63654600-63656000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:63654600-63656000	Enhancers	Fetal Muscle Leg	muscle
38	chr11:63654600-63656000	Enhancers	Placenta	Placenta
39	chr11:63654600-63656000	Enhancers	Fetal Stomach	stomach
40	chr11:63654600-63656000	Enhancers	Gastric	stomach
41	chr11:63654600-63656000	Enhancers	Right Atrium	heart
42	chr11:63654600-63656000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr11:63654600-63656800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:63654600-63657600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr11:63654800-63656000	Enhancers	Brain Anterior Caudate	brain
46	chr11:63654800-63656200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:63654800-63656200	Enhancers	NHLF	lung
48	chr11:63654800-63656400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:63654800-63656400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:63654800-63656600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links