Variant report

Variant	rs2436036
Chromosome Location	chr11:102323160-102323161
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	chr11:102322386-102324170	GM15510	blood:	n/a	n/a
2	MXI1	chr11:102322390-102324086	Hela-S3	cervix:	n/a	n/a
3	ZNF263	chr11:102323139-102324192	K562	blood:	n/a	chr11:102323854-102323863 chr11:102323831-102323840 chr11:102323848-102323869
4	CTCF	chr11:102323120-102323270	GM12869	blood:	n/a	n/a
5	POLR2A	chr11:102322179-102324433	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:102322958-102324072	PFSK-1	brain:	n/a	n/a
7	MYC	chr11:102321839-102324258	K562	blood:	n/a	chr11:102322677-102322687
8	POLR2A	chr11:102323143-102324046	U87	brain:	n/a	n/a
9	MAX	chr11:102322425-102324087	K562	blood:	n/a	chr11:102322677-102322687
10	MAX	chr11:102322933-102324296	SK-N-SH	brain:	n/a	n/a
11	FOXA1	chr11:102322123-102323836	HepG2	liver:	n/a	chr11:102322136-102322148
12	POLR2A	chr11:102323066-102323889	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:102322107-102324243	PANC-1	pancreas:	n/a	n/a
14	HEY1	chr11:102322433-102323844	HepG2	liver:	n/a	chr11:102322585-102322600 chr11:102323507-102323522
15	MAZ	chr11:102322376-102324291	K562	blood:	n/a	chr11:102322677-102322687
16	STAT5A	chr11:102322374-102323246	GM12878	blood:	n/a	n/a
17	HA-E2F1	chr11:102323034-102323840	Hela-S3	cervix:	n/a	chr11:102323431-102323441 chr11:102323428-102323438 chr11:102323432-102323442 chr11:102323068-102323078 chr11:102323516-102323526
18	ETS1	chr11:102323110-102323897	GM12878	blood:	n/a	chr11:102323400-102323411
19	E2F6	chr11:102322977-102323901	K562	blood:	n/a	chr11:102323431-102323441 chr11:102323428-102323438 chr11:102323432-102323442 chr11:102323068-102323078 chr11:102323516-102323526
20	HMGN3	chr11:102322423-102324165	K562	blood:	n/a	n/a
21	REST	chr11:102322960-102324221	H1-neurons	neurons:	n/a	chr11:102323513-102323526 chr11:102323065-102323078
22	POLR2A	chr11:102322406-102324055	GM18951	blood:	n/a	n/a
23	POLR2A	chr11:102322140-102324468	GM12891	blood:	n/a	n/a
24	JUND	chr11:102321966-102324315	K562	blood:	n/a	chr11:102323819-102323831
25	POLR2A	chr11:102322410-102324047	GM19099	blood:	n/a	n/a
26	ZNF263	chr11:102322310-102324567	HEK293-T-REx	kidney:	n/a	chr11:102323854-102323863 chr11:102323831-102323840 chr11:102323848-102323869
27	POLR2A	chr11:102322382-102323984	K562	blood:	n/a	n/a
28	NRF1	chr11:102322213-102324308	SK-N-SH	brain:	n/a	chr11:102323536-102323545 chr11:102323789-102323798 chr11:102322586-102322597
29	POLR2A	chr11:102322923-102323960	H1-hESC	embryonic stem cell:	n/a	n/a
30	MYC	chr11:102322996-102323918	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr11:102323114-102324034	HCT-116	colon:	n/a	n/a
32	POLR2A	chr11:102323158-102323975	GM12891	blood:	n/a	n/a
33	TCF12	chr11:102322474-102323955	ECC-1	luminal epithelium:	n/a	chr11:102322893-102322902
34	E2F6	chr11:102322428-102324008	K562	blood:	n/a	chr11:102323431-102323441 chr11:102323428-102323438 chr11:102323432-102323442 chr11:102323068-102323078 chr11:102323516-102323526
35	SRF	chr11:102323140-102323613	GM12878	blood:	n/a	chr11:102323495-102323513 chr11:102323495-102323509 chr11:102323493-102323511 chr11:102323496-102323510 chr11:102323495-102323512 chr11:102323499-102323513 chr11:102323497-102323510
36	ZNF143	chr11:102323111-102324122	GM12878	blood:	n/a	chr11:102323432-102323442 chr11:102323431-102323441
37	POLR2A	chr11:102322963-102324060	GM12892	blood:	n/a	n/a
38	YY1	chr11:102322473-102323527	ECC-1	luminal epithelium:	n/a	chr11:102323402-102323411 chr11:102323428-102323442 chr11:102323431-102323445
39	SIN3A	chr11:102322079-102324584	H1-hESC	embryonic stem cell:	n/a	n/a
40	BACH1	chr11:102322976-102323444	H1-hESC	embryonic stem cell:	n/a	n/a
41	RUNX3	chr11:102322258-102324132	GM12878	blood:	n/a	chr11:102323644-102323661
42	MAX	chr11:102322411-102324060	Hela-S3	cervix:	n/a	chr11:102322677-102322687
43	MAX	chr11:102322907-102324030	H1-hESC	embryonic stem cell:	n/a	n/a
44	MXI1	chr11:102321670-102324486	IMR90	lung:	n/a	chr11:102321895-102321910
45	MAX	chr11:102323075-102323868	HepG2	liver:	n/a	n/a
46	MAX	chr11:102322941-102323968	MCF-7	breast:	n/a	n/a
47	POLR2A	chr11:102323050-102323537	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr11:102322986-102323878	GM12878	blood:	n/a	n/a
49	RELA	chr11:102322440-102323901	GM19193	blood:	n/a	n/a
50	POLR2A	chr11:102323084-102323824	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:102216212..102220028-chr11:102319803..102324997,8	K562	blood:
2	chr11:102321122..102328963-chr11:102333676..102341979,14	MCF-7	breast:
3	chr11:102215215..102219130-chr11:102321135..102324493,6	K562	blood:
4	chr11:102186736..102188260-chr11:102321581..102323426,2	K562	blood:
5	chr11:102323011..102323973-chr11:102337807..102338344,2	MCF-7	breast:
6	chr11:102320576..102325526-chr11:102337005..102343107,13	MCF-7	breast:
7	chr11:102322841..102323477-chr3:12525558..12526087,2	HCT-116	colon:
8	chr11:102217672..102219340-chr11:102322046..102323844,2	MCF-7	breast:

Variant related genes	Relation type
TMEM123	TF binding region
ENSG00000255337	TF binding region
ENSG00000152558	Chromatin interaction
ENSG00000154743	Chromatin interaction
ENSG00000110330	Chromatin interaction
ENSG00000023445	Chromatin interaction
ENSG00000255482	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10219215	1.00[CHB][hapmap]
rs1058606	1.00[CHB][hapmap]
rs10895296	1.00[CHB][hapmap]
rs11225235	1.00[CHB][hapmap]
rs11225237	1.00[CHB][hapmap]
rs11547915	1.00[CHB][hapmap]
rs11601671	1.00[CHB][hapmap]
rs11604008	1.00[CHB][hapmap]
rs11604189	1.00[CHB][hapmap]
rs11605066	1.00[CHB][hapmap]
rs11605133	1.00[CHB][hapmap]
rs11607908	1.00[CHB][hapmap]
rs12271457	1.00[CHB][hapmap]
rs12274405	1.00[CHB][hapmap]
rs12275185	1.00[CHB][hapmap]
rs12275349	1.00[CHB][hapmap]
rs12277594	1.00[CHB][hapmap]
rs12277853	1.00[CHB][hapmap]
rs12279056	1.00[CHB][hapmap]
rs12283885	1.00[CHB][hapmap]
rs12291114	1.00[CHB][hapmap]
rs12293094	1.00[CHB][hapmap]
rs12293834	1.00[CHB][hapmap]
rs12792649	1.00[CHB][hapmap]
rs17350205	1.00[CHB][hapmap]
rs17350590	1.00[CHB][hapmap]
rs1943781	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs2567752	0.85[GIH][hapmap]
rs34740624	1.00[CHB][hapmap]
rs484068	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs485020	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs525305	1.00[CHB][hapmap]
rs531350	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.86[EUR][1000 genomes]
rs549513	1.00[GIH][hapmap];0.84[TSI][hapmap];0.90[EUR][1000 genomes]
rs577850	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs589068	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs589533	0.82[CEU][hapmap];0.86[AFR][1000 genomes]
rs637708	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs660908	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs667755	1.00[MEX][hapmap]
rs670334	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.86[LWK][hapmap];0.80[MKK][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1035567	chr11:102264516-102431607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv898334	chr11:102272884-102353192	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr11:102320600-102324200	Active TSS	Fetal Brain Female	brain
2	chr11:102320800-102324200	Bivalent/Poised TSS	HepG2	liver
3	chr11:102321000-102324200	Active TSS	Brain Angular Gyrus	brain
4	chr11:102321200-102323600	Active TSS	Primary T cells fromperipheralblood	blood
5	chr11:102321200-102323600	Active TSS	Fetal Thymus	thymus
6	chr11:102321200-102323800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:102321200-102324000	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr11:102321200-102324000	Active TSS	Thymus	Thymus
9	chr11:102321200-102324200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:102321200-102324200	Active TSS	Stomach Smooth Muscle	stomach
11	chr11:102321400-102324000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
12	chr11:102321400-102324000	Active TSS	Brain Hippocampus Middle	brain
13	chr11:102321400-102324200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:102321400-102324200	Active TSS	Right Atrium	heart
15	chr11:102321400-102324200	Active TSS	HSMMtube	muscle
16	chr11:102321400-102324200	Active TSS	NHLF	lung
17	chr11:102321600-102323800	Active TSS	GM12878-XiMat	blood
18	chr11:102321600-102324000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:102321600-102324000	Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr11:102321600-102324000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:102321600-102324000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr11:102321600-102324000	Active TSS	Fetal Intestine Small	intestine
23	chr11:102321600-102324000	Active TSS	HSMM	muscle
24	chr11:102321600-102324200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:102321600-102324200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:102321600-102324200	Active TSS	Brain Anterior Caudate	brain
27	chr11:102321600-102324200	Active TSS	Brain Cingulate Gyrus	brain
28	chr11:102321600-102324200	Active TSS	Fetal Intestine Large	intestine
29	chr11:102321600-102324200	Active TSS	Fetal Kidney	kidney
30	chr11:102321600-102324200	Active TSS	Fetal Stomach	stomach
31	chr11:102321600-102324400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:102321600-102324400	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr11:102321600-102324600	Active TSS	Brain Substantia Nigra	brain
34	chr11:102321800-102323600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:102321800-102323800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:102321800-102323800	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr11:102321800-102324000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:102321800-102324000	Active TSS	Primary T cells from cord blood	blood
39	chr11:102321800-102324000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:102321800-102324000	Active TSS	Fetal Muscle Leg	muscle
41	chr11:102321800-102324200	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr11:102321800-102324200	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr11:102321800-102324200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:102321800-102324200	Active TSS	Ovary	ovary
45	chr11:102321800-102324200	Active TSS	Rectal Smooth Muscle	rectum
46	chr11:102321800-102324200	Active TSS	A549	lung
47	chr11:102321800-102324200	Active TSS	NHDF-Ad	bronchial
48	chr11:102321800-102324400	Active TSS	Aorta	Aorta
49	chr11:102322000-102323800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:102322000-102323800	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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