Variant report

Variant	rs13357948
Chromosome Location	chr5:118789710-118789711
allele	G/T
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	chr5:118788092-118789851	PBDE	blood:	n/a	chr5:118788628-118788637 chr5:118788628-118788635 chr5:118788847-118788859 chr5:118788627-118788637
2	POLR2A	chr5:118788062-118790211	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:118787604-118790194	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118323861..118326778-chr5:118787539..118789741,2	MCF-7	breast:
2	chr5:118788483..118791355-chr5:118802793..118805177,3	K562	blood:

Variant related genes	Relation type
HSD17B4	TF binding region
ENSG00000239084	Chromatin interaction
ENSG00000169570	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10040115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10041122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10041785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10045177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10051448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10054525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10057263	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10057643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10061692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10062410	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10064454	1.00[EUR][1000 genomes]
rs10068320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10072256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10077255	1.00[EUR][1000 genomes]
rs10440770	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10477586	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10478423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13356711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13357873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13360025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13361084	1.00[EUR][1000 genomes]
rs28478666	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28504028	1.00[AFR][1000 genomes]
rs28558429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28588064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28590215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28673725	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28762138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28792671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55810648	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56303659	1.00[EUR][1000 genomes]
rs56372726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58184170	1.00[EUR][1000 genomes]
rs73790891	1.00[EUR][1000 genomes]
rs9885031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9885037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised 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	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv4974	chr5:118750259-118795376	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118787800-118790000	Active TSS	Fetal Brain Male	brain
2	chr5:118787800-118790200	Active TSS	Aorta	Aorta
3	chr5:118788000-118789800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr5:118788000-118790000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:118788000-118790000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr5:118788800-118789800	Flanking Active TSS	Brain Cingulate Gyrus	brain
7	chr5:118788800-118791000	Flanking Active TSS	Liver	Liver
8	chr5:118789000-118789800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:118789000-118789800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:118789000-118789800	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr5:118789000-118789800	Flanking Active TSS	Fetal Kidney	kidney
12	chr5:118789000-118789800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr5:118789000-118790000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:118789000-118790000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:118789000-118790000	Weak transcription	Lung	lung
16	chr5:118789000-118791400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:118789000-118795600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:118789000-118805000	Weak transcription	Esophagus	oesophagus
19	chr5:118789000-118805400	Weak transcription	Ovary	ovary
20	chr5:118789000-118805400	Weak transcription	Spleen	Spleen
21	chr5:118789000-118811800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:118789000-118813200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:118789000-118826800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:118789200-118789800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr5:118789200-118789800	Enhancers	Primary B cells from cord blood	blood
26	chr5:118789200-118789800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:118789200-118789800	Enhancers	Fetal Stomach	stomach
28	chr5:118789200-118789800	Enhancers	K562	blood
29	chr5:118789200-118790000	Weak transcription	Left Ventricle	heart
30	chr5:118789200-118790000	Weak transcription	Pancreas	Pancrea
31	chr5:118789200-118790000	Flanking Active TSS	HepG2	liver
32	chr5:118789200-118790200	Weak transcription	Small Intestine	intestine
33	chr5:118789200-118790600	Enhancers	Fetal Thymus	thymus
34	chr5:118789200-118791600	Weak transcription	Fetal Muscle Leg	muscle
35	chr5:118789200-118792000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:118789200-118792600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:118789200-118792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:118789200-118792800	Weak transcription	Right Ventricle	heart
39	chr5:118789200-118793400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr5:118789200-118794400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr5:118789200-118797600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:118789200-118803800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr5:118789200-118803800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr5:118789200-118805000	Weak transcription	Thymus	Thymus
45	chr5:118789200-118805400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:118789200-118805600	Weak transcription	Gastric	stomach
47	chr5:118789200-118813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:118789400-118789800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:118789400-118789800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr5:118789400-118789800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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