Variant report

Variant	rs2934813
Chromosome Location	chr5:14869915-14869916
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	GATA1	chr5:14868966-14870915	PBDE	blood:	n/a	chr5:14870120-14870131
2	RFX5	chr5:14869446-14870342	Hela-S3	cervix:	n/a	chr5:14870111-14870124
3	USF2	chr5:14869731-14870172	Hela-S3	cervix:	n/a	chr5:14869848-14869859
4	GATA3	chr5:14869892-14870419	MCF-7	breast:	n/a	chr5:14870120-14870131
5	MAX	chr5:14869814-14870321	Hela-S3	cervix:	n/a	n/a
6	MXI1	chr5:14869184-14873385	SK-N-SH	brain:	n/a	chr5:14869848-14869857
7	E2F4	chr5:14869810-14870129	MCF10A-Er-Src	breast:	n/a	n/a
8	RCOR1	chr5:14869843-14870123	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:14867615..14869927-chr5:14870237..14872388,4	K562	blood:
2	chr5:14864911..14869985-chr5:14870388..14873560,6	K562	blood:
3	chr1:11968024..11968902-chr5:14869583..14870398,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000272057	TF binding region
ENSG00000272057	Chromatin interaction
ENSG00000154122	Chromatin interaction
ENSG00000199347	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10065666	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10073421	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2921603	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2921604	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2921605	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2934814	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3006069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835150	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs835153	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs835154	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs863880	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv830212	chr5:14784197-14966683	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2753381	chr5:14814900-14882800	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv2755533	chr5:14814900-14882800	Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	esv2755538	chr5:14814900-14927500	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv530221	chr5:14859687-15364470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv969946	chr5:14867971-14880715	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2934813	ANKH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14831000-14870400	Weak transcription	Spleen	Spleen
2	chr5:14848800-14870000	Weak transcription	Thymus	Thymus
3	chr5:14855400-14870000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:14855400-14870000	Weak transcription	Placenta	Placenta
5	chr5:14861800-14870400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:14864200-14870000	Weak transcription	Pancreas	Pancrea
7	chr5:14865200-14870200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:14866600-14870000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:14868600-14870000	Enhancers	Colonic Mucosa	Colon
10	chr5:14868600-14871000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:14868800-14870000	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr5:14868800-14870200	Flanking Active TSS	Osteobl	bone
13	chr5:14869000-14870000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr5:14869000-14870200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr5:14869000-14870200	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr5:14869000-14871000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:14869000-14871000	Enhancers	K562	blood
18	chr5:14869000-14871200	Flanking Active TSS	Dnd41	blood
19	chr5:14869000-14871200	Flanking Active TSS	Hela-S3	cervix
20	chr5:14869000-14871600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr5:14869200-14870000	Weak transcription	Lung	lung
22	chr5:14869200-14870000	Weak transcription	Stomach Mucosa	stomach
23	chr5:14869200-14870200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:14869200-14870400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:14869200-14870400	Flanking Active TSS	Fetal Brain Female	brain
26	chr5:14869200-14870600	Enhancers	Placenta Amnion	Placenta Amnion
27	chr5:14869200-14870800	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr5:14869200-14870800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr5:14869200-14871200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr5:14869400-14870000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:14869400-14870000	Weak transcription	Psoas Muscle	Psoas
32	chr5:14869400-14870000	Weak transcription	Small Intestine	intestine
33	chr5:14869400-14870200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr5:14869400-14870400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:14869400-14872800	Active TSS	Rectal Smooth Muscle	rectum
36	chr5:14869400-14873000	Active TSS	Aorta	Aorta
37	chr5:14869600-14870000	Flanking Active TSS	Fetal Heart	heart
38	chr5:14869600-14870000	Enhancers	Stomach Smooth Muscle	stomach
39	chr5:14869600-14870200	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr5:14869600-14870200	Flanking Active TSS	Brain Germinal Matrix	brain
41	chr5:14869600-14870400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr5:14869600-14870400	Flanking Active TSS	HMEC	breast
43	chr5:14869600-14873000	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr5:14869600-14873200	Active TSS	Brain Cingulate Gyrus	brain
45	chr5:14869600-14873200	Active TSS	Fetal Intestine Small	intestine
46	chr5:14869800-14870000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:14869800-14870000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:14869800-14870000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:14869800-14870000	Active TSS	Muscle Satellite Cultured Cells	--
50	chr5:14869800-14870000	Active TSS	Brain Angular Gyrus	brain

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