Variant report

Variant	rs34563314
Chromosome Location	chr11:64884936-64884937
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	MAX	chr11:64884012-64885667	HepG2	liver:	n/a	chr11:64885269-64885278
2	TRIM28	chr11:64884766-64885642	K562	blood:	n/a	n/a
3	UBTF	chr11:64884318-64885503	K562	blood:	n/a	n/a
4	POLR2A	chr11:64884555-64885580	HepG2	liver:	n/a	n/a
5	E2F6	chr11:64883750-64885555	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr11:64884830-64885594	Hela-S3	cervix:	n/a	chr11:64885269-64885278
7	EGR1	chr11:64884814-64885582	MCF-7	breast:	n/a	chr11:64885268-64885279 chr11:64885267-64885280 chr11:64885268-64885278 chr11:64885268-64885277 chr11:64885268-64885279 chr11:64885267-64885280 chr11:64885266-64885281 chr11:64885267-64885280 chr11:64885266-64885280 chr11:64885268-64885278 chr11:64885267-64885280 chr11:64885262-64885284
8	POU2F2	chr11:64884880-64885253	GM12878	blood:	n/a	n/a
9	CHD1	chr11:64884547-64885140	H1-hESC	embryonic stem cell:	n/a	n/a
10	JUN	chr11:64884129-64885655	K562	blood:	n/a	chr11:64885359-64885372
11	POLR2A	chr11:64884048-64885688	HUVEC	blood vessel:	n/a	n/a
12	TAF1	chr11:64884719-64885253	H1-hESC	embryonic stem cell:	n/a	n/a
13	ELF1	chr11:64883998-64885513	GM12878	blood:	n/a	chr11:64885175-64885188 chr11:64885176-64885187 chr11:64885196-64885209 chr11:64885198-64885207 chr11:64885177-64885186 chr11:64885197-64885208
14	CHD1	chr11:64884706-64885584	GM12878	blood:	n/a	n/a
15	YY1	chr11:64884723-64885483	HCT-116	colon:	n/a	n/a
16	EP300	chr11:64884649-64885634	ECC-1	luminal epithelium:	n/a	chr11:64885198-64885205 chr11:64885177-64885184
17	POLR2A	chr11:64884197-64885566	GM15510	blood:	n/a	n/a
18	SP1	chr11:64884800-64885617	GM12878	blood:	n/a	chr11:64885264-64885275 chr11:64885289-64885299 chr11:64885348-64885357 chr11:64885288-64885300 chr11:64885289-64885303 chr11:64885289-64885298
19	NR2C2	chr11:64884864-64885366	GM12878	blood:	n/a	n/a
20	ELF1	chr11:64884032-64885673	MCF-7	breast:	n/a	chr11:64885175-64885188 chr11:64885176-64885187 chr11:64885196-64885209 chr11:64885198-64885207 chr11:64885177-64885186 chr11:64885197-64885208
21	GABPA	chr11:64884726-64885400	GM12878	blood:	n/a	n/a
22	STAT5A	chr11:64884084-64885777	GM12878	blood:	n/a	chr11:64884981-64885005
23	TCF3	chr11:64884793-64885261	GM12878	blood:	n/a	n/a
24	FOXM1	chr11:64884554-64885706	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:64884818-64885482	A549	lung:	n/a	n/a
26	POLR2A	chr11:64884063-64885547	K562	blood:	n/a	n/a
27	USF1	chr11:64884743-64885648	ECC-1	luminal epithelium:	n/a	chr11:64885212-64885228
28	SIN3AK20	chr11:64884226-64885522	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr11:64881621-64885776	GM12891	blood:	n/a	n/a
30	HEY1	chr11:64884814-64885554	K562	blood:	n/a	chr11:64885212-64885227
31	CTCF	chr11:64884623-64886178	SK-N-SH	brain:	n/a	chr11:64885413-64885431 chr11:64885414-64885430 chr11:64885408-64885429 chr11:64885419-64885428
32	SIN3AK20	chr11:64884903-64885273	H1-hESC	embryonic stem cell:	n/a	n/a
33	POU2F2	chr11:64884199-64885634	GM12891	blood:	n/a	n/a
34	FOXP2	chr11:64884638-64885574	PFSK-1	brain:	n/a	n/a
35	EBF1	chr11:64884882-64885329	GM12878	blood:	n/a	n/a
36	REST	chr11:64884669-64885335	A549	lung:	n/a	n/a
37	POU2F2	chr11:64884865-64885524	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:64879949-64886482	MCF10A-Er-Src	breast:	n/a	n/a
39	MAX	chr11:64884853-64885548	K562	blood:	n/a	chr11:64885269-64885278
40	POLR2A	chr11:64884836-64885434	Gliobla	brain:	n/a	n/a
41	POLR2A	chr11:64884208-64885660	GM12878	blood:	n/a	n/a
42	TCF12	chr11:64883940-64885757	A549	lung:	n/a	n/a
43	PBX3	chr11:64884110-64885795	SK-N-SH	brain:	n/a	n/a
44	ZBTB33	chr11:64884425-64885645	SK-N-SH	brain:	n/a	n/a
45	YY1	chr11:64884549-64885565	SK-N-SH_RA	brain:	n/a	n/a
46	ZC3H11A	chr11:64884930-64885634	K562	blood:	n/a	n/a
47	RELA	chr11:64884436-64885597	GM18951	blood:	n/a	n/a
48	POLR2A	chr11:64884894-64885661	K562	blood:	n/a	n/a
49	EP300	chr11:64884706-64885503	SK-N-SH_RA	brain:	n/a	chr11:64885198-64885205 chr11:64885177-64885184
50	CEBPD	chr11:64884822-64885470	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64883300..64885236-chr11:64972448..64974242,2	K562	blood:
2	chr11:64536552..64539187-chr11:64882695..64885248,2	MCF-7	breast:
3	chr11:64787248..64789903-chr11:64884461..64886081,2	MCF-7	breast:
4	chr11:64779861..64784378-chr11:64881512..64885598,8	MCF-7	breast:
5	chr11:64544471..64546951-chr11:64883207..64885206,3	K562	blood:
6	chr11:64781063..64782155-chr11:64884745..64885349,3	MCF-7	breast:
7	chr11:64778393..64787449-chr11:64877655..64886980,25	K562	blood:
8	chr11:64569309..64573413-chr11:64882963..64885967,3	K562	blood:
9	chr11:64884104..64886722-chr11:65028926..65030544,2	MCF-7	breast:
10	chr11:64654425..64656235-chr11:64883004..64885352,2	K562	blood:
11	chr11:64781092..64781604-chr11:64884776..64885809,3	MCF-7	breast:
12	chr11:64568159..64573413-chr11:64882450..64885409,5	K562	blood:
13	chr11:64884264..64885235-chrX:47004398..47004945,2	Hela-S3	cervix:
14	chr11:64544278..64548048-chr11:64882517..64885401,5	K562	blood:
15	chr11:64884757..64886643-chr17:56708077..56710553,2	MCF-7	breast:
16	chr11:64609572..64613469-chr11:64883335..64886835,8	MCF-7	breast:
17	chr11:64862526..64865749-chr11:64882167..64886670,6	K562	blood:
18	chr11:64884402..64886500-chr12:56223721..56226196,2	MCF-7	breast:
19	chr11:64642261..64647543-chr11:64882719..64886329,5	MCF-7	breast:
20	chr11:64806922..64809393-chr11:64883452..64886674,3	MCF-7	breast:
21	chr11:64643589..64645871-chr11:64883152..64885290,3	K562	blood:
22	chr11:64880606..64886969-chr11:64935331..64942091,20	K562	blood:
23	chr11:64793866..64796535-chr11:64884856..64887631,3	K562	blood:
24	chr11:64877702..64891058-chr11:64944203..64957091,32	K562	blood:
25	chr11:64643590..64647956-chr11:64883297..64887661,6	MCF-7	breast:
26	chr11:64875868..64888016-chr11:64945810..64953962,46	MCF-7	breast:
27	chr11:64610442..64614915-chr11:64882306..64888577,8	K562	blood:
28	chr11:64778507..64787901-chr11:64877920..64890097,31	K562	blood:
29	chr11:64772580..64786543-chr11:64875055..64887722,37	MCF-7	breast:
30	chr11:64878261..64886969-chr11:64935331..64941944,21	K562	blood:
31	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
32	chr11:64884386..64886553-chr6:30687642..30689654,2	MCF-7	breast:
33	chr11:64882968..64888833-chr11:64945101..64949501,11	K562	blood:
34	chr11:64883613..64891269-chr11:65027573..65033885,11	K562	blood:
35	chr11:64849686..64855071-chr11:64883547..64886732,9	MCF-7	breast:
36	chr11:64569285..64571691-chr11:64884123..64886254,2	MCF-7	breast:
37	chr11:64884687..64887195-chr19:13260976..13262703,2	MCF-7	breast:
38	chr11:64883520..64885092-chr15:69744413..69746307,2	MCF-7	breast:
39	chr11:64606648..64614730-chr11:64876453..64886748,20	MCF-7	breast:
40	chr11:64611161..64616461-chr11:64883590..64887057,5	K562	blood:
41	chr11:64884257..64886940-chr11:64972599..64976618,4	MCF-7	breast:
42	chr11:64883484..64885408-chr6:30582873..30584863,2	MCF-7	breast:
43	chr11:64883635..64887153-chr11:65027849..65031198,3	MCF-7	breast:

Variant related genes	Relation type
MRPL49	TF binding region
ENSG00000196230	Chromatin interaction
ENSG00000270775	Chromatin interaction
ENSG00000168067	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000160888	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000137818	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000147123	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000255200	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000249251	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000182872	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000104915	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs60008377	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9333583	1.00[AFR][1000 genomes];1.00[AMR][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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 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	chr11:64882200-64886600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:64883400-64885600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
3	chr11:64883600-64885200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr11:64883800-64885200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr11:64883800-64885200	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr11:64883800-64885200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:64883800-64885200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:64883800-64885200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr11:64883800-64885200	Active TSS	Psoas Muscle	Psoas
10	chr11:64883800-64885400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:64883800-64885600	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr11:64884000-64885000	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:64884000-64885000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:64884000-64885000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr11:64884000-64885000	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr11:64884000-64885000	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr11:64884000-64885200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:64884000-64885200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:64884000-64885200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr11:64884000-64885200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr11:64884000-64885200	Flanking Active TSS	Colonic Mucosa	Colon
22	chr11:64884000-64885400	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:64884000-64885400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr11:64884000-64885400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr11:64884000-64885600	Active TSS	H9 Cell Line	embryonic stem cell
26	chr11:64884000-64885600	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr11:64884200-64885000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr11:64884200-64885200	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr11:64884200-64885200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:64884200-64885200	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr11:64884200-64885200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:64884200-64885200	Active TSS	Primary T cells from cord blood	blood
33	chr11:64884200-64885200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:64884200-64885200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:64884200-64885200	Active TSS	Ovary	ovary
36	chr11:64884200-64885200	Active TSS	HSMMtube	muscle
37	chr11:64884200-64885200	Active TSS	K562	blood
38	chr11:64884200-64885600	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr11:64884200-64885600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:64884200-64885600	Active TSS	Fetal Kidney	kidney
41	chr11:64884400-64885200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr11:64884400-64885200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:64884400-64885200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:64884400-64885200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:64884400-64885200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:64884400-64885200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:64884400-64885200	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr11:64884400-64885200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:64884400-64885200	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr11:64884400-64885200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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