Variant report

Variant	rs11031250
Chromosome Location	chr11:4208130-4208131
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	POLR2A	chr11:4208127-4208220	MCF10A-Er-Src	breast:	n/a	n/a
2	MAFK	chr11:4208084-4208422	Hela-S3	cervix:	n/a	n/a
3	MAZ	chr11:4208128-4209796	IMR90	lung:	n/a	chr11:4208711-4208720 chr11:4208944-4208954
4	RCOR1	chr11:4207934-4208527	K562	blood:	n/a	n/a
5	CEBPB	chr11:4208020-4208479	Hela-S3	cervix:	n/a	n/a
6	RAD21	chr11:4208043-4209308	A549	lung:	n/a	chr11:4208949-4208968 chr11:4208652-4208662 chr11:4208414-4208424
7	ZC3H11A	chr11:4208122-4208441	K562	blood:	n/a	n/a
8	TFAP2C	chr11:4208055-4209086	Hela-S3	cervix:	n/a	n/a
9	ZNF263	chr11:4207891-4209137	HEK293-T-REx	kidney:	n/a	n/a
10	CTCF	chr11:4208119-4208516	A549	lung:	n/a	n/a
11	RAD21	chr11:4208099-4208518	MCF-7	breast:	n/a	chr11:4208414-4208424
12	BHLHE40	chr11:4208122-4208459	K562	blood:	n/a	n/a
13	KAP1	chr11:4207983-4209148	HEK293	kidney:	n/a	n/a
14	RCOR1	chr11:4207864-4208540	K562	blood:	n/a	n/a
15	JUND	chr11:4208062-4208491	K562	blood:	n/a	n/a
16	MYC	chr11:4208066-4208509	K562	blood:	n/a	n/a
17	MAFK	chr11:4208085-4208348	K562	blood:	n/a	n/a
18	RCOR1	chr11:4208025-4209155	Hela-S3	cervix:	n/a	n/a
19	ZNF143	chr11:4207891-4208512	K562	blood:	n/a	n/a
20	CTCF	chr11:4208003-4209354	HCT-116	colon:	n/a	chr11:4208948-4208966
21	RAD21	chr11:4208114-4208511	Hela-S3	cervix:	n/a	chr11:4208414-4208424
22	CTCF	chr11:4208105-4208541	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr11:4208109-4209212	GM12878	blood:	n/a	chr11:4208948-4208966
24	RAD21	chr11:4208006-4209383	SK-N-SH	brain:	n/a	chr11:4208949-4208968 chr11:4208652-4208662 chr11:4208414-4208424
25	SMC3	chr11:4208122-4208467	GM12878	blood:	n/a	n/a
26	YY1	chr11:4208053-4209175	H1-hESC	embryonic stem cell:	n/a	chr11:4209066-4209077 chr11:4208986-4209000 chr11:4208721-4208732 chr11:4208617-4208626 chr11:4208618-4208629 chr11:4208444-4208455 chr11:4208724-4208738
27	UBTF	chr11:4208111-4208512	K562	blood:	n/a	n/a
28	HCFC1	chr11:4208082-4209103	K562	blood:	n/a	n/a
29	SMC3	chr11:4208118-4209341	Hela-S3	cervix:	n/a	n/a
30	MAX	chr11:4208098-4208631	H1-hESC	embryonic stem cell:	n/a	n/a
31	RAD21	chr11:4208123-4208485	MCF-7	breast:	n/a	chr11:4208414-4208424
32	SIN3A	chr11:4208119-4209111	H1-hESC	embryonic stem cell:	n/a	chr11:4208826-4208835 chr11:4208937-4208948 chr11:4208542-4208553
33	MAX	chr11:4207882-4209243	A549	lung:	n/a	chr11:4208711-4208720 chr11:4208944-4208954
34	MXI1	chr11:4208114-4208506	Hela-S3	cervix:	n/a	n/a
35	RAD21	chr11:4208037-4209639	H1-hESC	embryonic stem cell:	n/a	chr11:4208949-4208968 chr11:4208652-4208662 chr11:4208414-4208424
36	KAP1	chr11:4207956-4208365	U2OS	brain:	n/a	n/a
37	JUND	chr11:4207932-4209105	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr11:4207962-4209438	A549	lung:	n/a	chr11:4208948-4208966
39	CTCF	chr11:4208120-4208270	HAc	cerebellar:	n/a	n/a
40	REST	chr11:4207903-4209318	H1-neurons	neurons:	n/a	chr11:4208545-4208558 chr11:4208643-4208656 chr11:4208825-4208835
41	CTCF	chr11:4208089-4208490	A549	lung:	n/a	n/a
42	ZNF143	chr11:4208056-4208436	Hela-S3	cervix:	n/a	n/a
43	CBX3	chr11:4208019-4208474	K562	blood:	n/a	n/a
44	CTCF	chr11:4208056-4208614	MCF-7	breast:	n/a	n/a
45	CTCF	chr11:4208085-4209311	HCT-116	colon:	n/a	chr11:4208948-4208966
46	RAD21	chr11:4208103-4208591	ECC-1	luminal epithelium:	n/a	chr11:4208414-4208424
47	YY1	chr11:4208118-4208567	K562	blood:	n/a	chr11:4208444-4208455
48	ZNF143	chr11:4208011-4208513	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr11:4208084-4209355	K562	blood:	n/a	chr11:4208948-4208966
50	RAD21	chr11:4208089-4208469	HepG2	liver:	n/a	chr11:4208414-4208424

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4205317..4208248-chr11:4208372..4210447,2	K562	blood:

Variant related genes	Relation type
ENSG00000254480	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10500595	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10500596	1.00[ASN][1000 genomes]
rs10835677	1.00[AFR][1000 genomes]
rs10835692	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835742	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835745	1.00[ASN][1000 genomes]
rs10835750	1.00[ASN][1000 genomes]
rs11030569	1.00[AFR][1000 genomes]
rs11031221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031226	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031231	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031240	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031262	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031291	1.00[ASN][1000 genomes]
rs11522593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11522634	1.00[AFR][1000 genomes]
rs11524415	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607489	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11607973	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12146578	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1348311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17284244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35016166	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4269918	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv832053	chr11:4096527-4330263	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1053189	chr11:4123119-4359044	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1048590	chr11:4133055-4225100	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv540911	chr11:4133055-4225100	Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1053482	chr11:4138062-4276133	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3380413	chr11:4159374-4323846	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv8777	chr11:4159953-4387268	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1045527	chr11:4162019-4225100	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv34983	chr11:4162474-4325792	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	esv2757417	chr11:4162477-4325792	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv818795	chr11:4167416-4238930	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv467662	chr11:4185595-4272343	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv553151	chr11:4185595-4272343	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv469627	chr11:4186981-4336490	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv482725	chr11:4186981-4336490	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	nsv428799	chr11:4186981-4336490	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
20	nsv471670	chr11:4186982-4336490	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv467663	chr11:4188188-4238930	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv553152	chr11:4188188-4238930	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv469932	chr11:4200169-4272343	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
24	esv3426224	chr11:4207601-4210149	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4197600-4208200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:4197600-4208200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:4200000-4208200	Enhancers	Liver	Liver
4	chr11:4205800-4209000	Weak transcription	Fetal Lung	lung
5	chr11:4206200-4208200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:4206200-4208200	Weak transcription	Right Ventricle	heart
7	chr11:4206400-4208200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:4206800-4208200	Enhancers	Primary hematopoietic stem cells	blood
9	chr11:4206800-4209200	Weak transcription	Fetal Heart	heart
10	chr11:4208000-4208200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr11:4208000-4208200	Enhancers	Brain Germinal Matrix	brain
12	chr11:4208000-4208200	Enhancers	Colon Smooth Muscle	Colon
13	chr11:4208000-4208200	Enhancers	HUVEC	blood vessel
14	chr11:4208000-4208400	Flanking Active TSS	Hela-S3	cervix
15	chr11:4208000-4208600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:4208000-4209000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:4208000-4209200	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr11:4208000-4209200	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr11:4208000-4209200	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr11:4208000-4209200	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr11:4208000-4209200	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr11:4208000-4209200	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:4208000-4209200	Active TSS	K562	blood
24	chr11:4208000-4209400	Active TSS	H1 Cell Line	embryonic stem cell
25	chr11:4208000-4209400	Active TSS	A549	lung
26	chr11:4208000-4209600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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