Variant report

Variant	rs7932887
Chromosome Location	chr11:18417197-18417198
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:180)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:180 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:18416613-18417200	GM12891	blood:	n/a	n/a
2	POLR2A	chr11:18415382-18418227	K562	blood:	n/a	n/a
3	POLR2A	chr11:18415374-18419965	PFSK-1	brain:	n/a	n/a
4	RAD21	chr11:18416827-18418032	IMR90	lung:	n/a	n/a
5	STAT3	chr11:18417137-18418035	MCF10A-Er-Src	breast:	n/a	n/a
6	UBTF	chr11:18415481-18417943	K562	blood:	n/a	n/a
7	POLR2A	chr11:18415562-18418240	MCF-7	breast:	n/a	n/a
8	HEY1	chr11:18415397-18418254	K562	blood:	n/a	chr11:18416059-18416068 chr11:18416057-18416066
9	REST	chr11:18417117-18417721	A549	lung:	n/a	n/a
10	POLR2A	chr11:18416914-18418393	PBDE	blood:	n/a	n/a
11	TBP	chr11:18417127-18417977	HepG2	liver:	n/a	n/a
12	POLR2A	chr11:18417063-18418254	GM12891	blood:	n/a	n/a
13	MYC	chr11:18415324-18418072	Hela-S3	cervix:	n/a	chr11:18417082-18417092 chr11:18415924-18415931 chr11:18415923-18415932
14	POLR2A	chr11:18415742-18417294	GM12878	blood:	n/a	n/a
15	MAFK	chr11:18417168-18418079	K562	blood:	n/a	n/a
16	POLR2A	chr11:18415572-18418315	GM12878	blood:	n/a	n/a
17	ZNF143	chr11:18416912-18418118	Hela-S3	cervix:	n/a	n/a
18	MAX	chr11:18417177-18418240	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr11:18415335-18418286	HL-60	blood:	n/a	n/a
20	SIN3AK20	chr11:18417178-18418001	PFSK-1	brain:	n/a	n/a
21	MAX	chr11:18415310-18418283	HCT-116	colon:	n/a	chr11:18417082-18417092 chr11:18415924-18415931 chr11:18415923-18415932
22	SIN3AK20	chr11:18417060-18417882	K562	blood:	n/a	n/a
23	MTA3	chr11:18415294-18418275	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:18415423-18418116	Raji	blood:	n/a	n/a
25	TAF1	chr11:18417115-18417906	A549	lung:	n/a	n/a
26	POLR2A	chr11:18415544-18418206	GM18505	blood:	n/a	n/a
27	POLR2A	chr11:18415535-18418317	GM12892	blood:	n/a	n/a
28	POLR2A	chr11:18415500-18418234	HepG2	liver:	n/a	n/a
29	SIN3AK20	chr11:18416747-18418219	MCF-7	breast:	n/a	n/a
30	POLR2A	chr11:18415416-18418260	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr11:18417147-18418269	HUVEC	blood vessel:	n/a	n/a
32	CEBPB	chr11:18417173-18417755	MCF-7	breast:	n/a	n/a
33	POLR2A	chr11:18417166-18418158	ECC-1	luminal epithelium:	n/a	n/a
34	MAX	chr11:18415509-18418014	Hela-S3	cervix:	n/a	chr11:18417082-18417092 chr11:18415924-18415931 chr11:18415923-18415932
35	POLR2A	chr11:18415356-18422999	PFSK-1	brain:	n/a	n/a
36	CEBPB	chr11:18417098-18417722	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr11:18416728-18417229	HepG2	liver:	n/a	n/a
38	USF1	chr11:18417013-18417828	A549	lung:	n/a	n/a
39	POLR2A	chr11:18415643-18418217	ProgFib	skin:	n/a	n/a
40	TFAP2C	chr11:18417112-18418090	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr11:18416853-18418145	A549	lung:	n/a	n/a
42	POLR2A	chr11:18417197-18418240	ECC-1	luminal epithelium:	n/a	n/a
43	PML	chr11:18415457-18418386	GM12878	blood:	n/a	n/a
44	HEY1	chr11:18417180-18418020	HepG2	liver:	n/a	n/a
45	POLR2A	chr11:18415471-18418206	K562	blood:	n/a	n/a
46	POLR2A	chr11:18415709-18418162	HepG2	liver:	n/a	n/a
47	TAF1	chr11:18416714-18418100	PFSK-1	brain:	n/a	n/a
48	POLR2A	chr11:18417158-18418113	HEK293	kidney:	n/a	n/a
49	POLR2A	chr11:18416728-18418161	K562	blood:	n/a	n/a
50	CHD2	chr11:18417011-18418029	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:18340646..18350403-chr11:18414573..18418572,22	K562	blood:
2	chr11:18416876..18417614-chr3:115771645..115772165,2	Hela-S3	cervix:
3	chr11:18416882..18418570-chr11:18504246..18506790,2	K562	blood:
4	chr11:18414795..18417618-chr11:18546727..18549809,4	MCF-7	breast:
5	chr11:18365375..18369096-chr11:18414733..18417585,5	MCF-7	breast:
6	chr11:18415873..18420206-chr11:18430045..18435036,6	MCF-7	breast:
7	chr1:117908068..117910617-chr11:18415187..18418094,2	MCF-7	breast:
8	chr11:18343053..18346262-chr11:18415665..18418898,6	MCF-7	breast:
9	chr11:18416155..18417729-chr20:42084021..42086862,2	MCF-7	breast:
10	chr11:18415280..18417349-chr11:18656133..18657834,2	MCF-7	breast:
11	chr11:18416054..18417892-chr11:18432317..18434579,2	K562	blood:
12	chr11:18416584..18419436-chr12:7046184..7047780,2	K562	blood:
13	chr11:18340586..18347042-chr11:18413380..18419628,16	K562	blood:
14	chr11:18342491..18345045-chr11:18415566..18419495,5	MCF-7	breast:
15	chr11:18366987..18369152-chr11:18416005..18417921,2	MCF-7	breast:
16	chr11:18415399..18418482-chr11:18547632..18550708,3	MCF-7	breast:
17	chr11:18417073..18418064-chr15:59981374..59982004,2	Hela-S3	cervix:
18	chr11:18415166..18418061-chr11:18653248..18658001,5	K562	blood:
19	chr11:18416044..18417626-chr11:18558294..18561234,2	MCF-7	breast:
20	chr11:18414619..18417567-chr11:18475840..18478644,2	K562	blood:
21	chr11:18415765..18417941-chr11:18547561..18549649,2	K562	blood:
22	chr11:18152566..18154757-chr11:18415660..18417661,2	K562	blood:
23	chr11:18414611..18420404-chr11:18425224..18433817,11	K562	blood:

No data

Variant related genes	Relation type
LDHA	TF binding region
ENSG00000179119	Chromatin interaction
ENSG00000166796	Chromatin interaction
ENSG00000110756	Chromatin interaction
ENSG00000110768	Chromatin interaction
ENSG00000179826	Chromatin interaction
ENSG00000074319	Chromatin interaction
ENSG00000198162	Chromatin interaction
ENSG00000151116	Chromatin interaction
ENSG00000166800	Chromatin interaction
ENSG00000140299	Chromatin interaction
ENSG00000271427	Chromatin interaction
ENSG00000111676	Chromatin interaction
ENSG00000124193	Chromatin interaction
ENSG00000256006	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10832925	0.93[EUR][1000 genomes]
rs10832928	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11024637	0.97[EUR][1000 genomes]
rs11024642	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11024644	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11024647	0.84[LWK][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes]
rs12269752	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12270402	0.82[AMR][1000 genomes]
rs12273776	0.93[EUR][1000 genomes]
rs12274166	0.93[EUR][1000 genomes]
rs12274651	0.87[ASW][hapmap];1.00[CEU][hapmap];0.87[LWK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12275692	1.00[CEU][hapmap];0.90[TSI][hapmap];0.93[EUR][1000 genomes]
rs12276166	0.93[EUR][1000 genomes]
rs12284013	1.00[CEU][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12284667	0.93[EUR][1000 genomes]
rs12287183	0.93[EUR][1000 genomes]
rs12293002	0.82[AMR][1000 genomes]
rs12795955	0.82[AMR][1000 genomes]
rs12804008	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12806009	0.82[AMR][1000 genomes]
rs2896527	0.81[YRI][hapmap]
rs35126672	0.80[AFR][1000 genomes];0.82[AMR][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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats 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 miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
4	nsv1047049	chr11:18359702-18520008	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv540955	chr11:18359702-18520008	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	esv1811183	chr11:18389643-18432437	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 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	chr11:18415400-18417600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr11:18415400-18418000	Active TSS	Fetal Kidney	kidney
3	chr11:18415400-18418400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:18415600-18417600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr11:18415600-18418000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr11:18415600-18418000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr11:18415600-18418200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:18415600-18418200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:18415600-18418200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:18415600-18418200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr11:18415600-18418200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:18415600-18418400	Active TSS	Psoas Muscle	Psoas
13	chr11:18415800-18417600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:18415800-18417800	Active TSS	Liver	Liver
15	chr11:18415800-18417800	Active TSS	NHEK	skin
16	chr11:18415800-18418000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:18415800-18418000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:18415800-18418000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:18415800-18418000	Active TSS	Brain Angular Gyrus	brain
20	chr11:18415800-18418000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:18415800-18418000	Active TSS	Left Ventricle	heart
22	chr11:18415800-18418000	Active TSS	Lung	lung
23	chr11:18415800-18418000	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr11:18415800-18418200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:18415800-18418200	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr11:18415800-18418200	Active TSS	Esophagus	oesophagus
27	chr11:18415800-18418200	Active TSS	Ovary	ovary
28	chr11:18415800-18418400	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr11:18415800-18418400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:18415800-18418400	Active TSS	H9 Cell Line	embryonic stem cell
31	chr11:18415800-18418400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:18415800-18418400	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr11:18415800-18418400	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr11:18415800-18418400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:18415800-18418400	Active TSS	Brain Hippocampus Middle	brain
36	chr11:18415800-18418400	Flanking Active TSS	Placenta	Placenta
37	chr11:18415800-18418400	Active TSS	Small Intestine	intestine
38	chr11:18416000-18417200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:18416000-18417200	Active TSS	Fetal Heart	heart
40	chr11:18416000-18417800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:18416000-18417800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr11:18416000-18417800	Active TSS	Osteobl	bone
43	chr11:18416000-18418000	Active TSS	Primary T cells from cord blood	blood
44	chr11:18416000-18418000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:18416000-18418000	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr11:18416000-18418000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:18416000-18418000	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr11:18416000-18418000	Active TSS	Brain Cingulate Gyrus	brain
49	chr11:18416000-18418000	Active TSS	Fetal Intestine Large	intestine
50	chr11:18416000-18418000	Active TSS	Fetal Intestine Small	intestine

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