Variant report

Variant	rs72734672
Chromosome Location	chr5:36882633-36882634
allele	C/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	NRF1	chr5:36882622-36882737	GM12878	blood:	n/a	n/a
2	CUX1	chr5:36882039-36882670	GM12878	blood:	n/a	n/a
3	TBL1XR1	chr5:36882530-36882788	GM12878	blood:	n/a	n/a
4	BHLHE40	chr5:36882261-36882800	GM12878	blood:	n/a	n/a
5	SPI1	chr5:36882270-36882643	GM12891	blood:	n/a	chr5:36882467-36882476
6	EP300	chr5:36882554-36882701	GM12878	blood:	n/a	n/a
7	SPI1	chr5:36882251-36882708	GM12891	blood:	n/a	chr5:36882467-36882476
8	EP300	chr5:36882317-36882648	GM12878	blood:	n/a	n/a
9	STAT1	chr5:36882536-36882685	GM12878	blood:	n/a	n/a
10	STAT3	chr5:36882219-36882791	GM12878	blood:	n/a	n/a
11	EBF1	chr5:36882201-36882763	GM12878	blood:	n/a	n/a
12	NFIC	chr5:36882194-36882757	GM12878	blood:	n/a	n/a
13	ZNF143	chr5:36882362-36882772	GM12878	blood:	n/a	n/a
14	ARID3A	chr5:36881558-36882796	K562	blood:	n/a	n/a
15	POLR2A	chr5:36882493-36882768	GM12891	blood:	n/a	n/a
16	MXI1	chr5:36882210-36882795	GM12878	blood:	n/a	n/a
17	CUX1	chr5:36881672-36882876	K562	blood:	n/a	n/a
18	TBP	chr5:36882254-36882815	GM12878	blood:	n/a	n/a
19	EP300	chr5:36882083-36882749	GM12878	blood:	n/a	n/a
20	POLR2A	chr5:36882272-36882764	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36881365..36883410-chr5:36892096..36895669,3	K562	blood:
2	chr5:36881285..36883569-chr5:36896456..36898499,2	K562	blood:

Variant related genes	Relation type
KRT18P31	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs55702678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55712022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55739939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55886401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56065778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56272083	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs56332781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72732594	0.90[EUR][1000 genomes]
rs72732600	0.90[EUR][1000 genomes]
rs72732601	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72734604	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72734607	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72734609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72734671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734681	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72734682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72734702	0.81[EUR][1000 genomes]
rs72736704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736708	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72736710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736723	0.81[EUR][1000 genomes]
rs72736727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736738	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	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv532133	chr5:36834932-36906436	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36877800-36885400	Weak transcription	Spleen	Spleen
2	chr5:36878800-36885400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:36879000-36885600	Weak transcription	Placenta	Placenta
4	chr5:36879200-36883400	Enhancers	Colon Smooth Muscle	Colon
5	chr5:36879200-36885200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:36879200-36885200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:36879200-36885200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:36879200-36885200	Weak transcription	Gastric	stomach
9	chr5:36879200-36885200	Weak transcription	Pancreas	Pancrea
10	chr5:36879200-36885400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:36879200-36885400	Weak transcription	Esophagus	oesophagus
12	chr5:36879200-36885400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr5:36879200-36885400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:36879200-36885600	Weak transcription	Colonic Mucosa	Colon
15	chr5:36879200-36885800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:36879200-36885800	Weak transcription	Small Intestine	intestine
17	chr5:36879200-36889400	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr5:36879400-36882800	Enhancers	Hela-S3	cervix
19	chr5:36879400-36883000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr5:36879400-36883000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr5:36879400-36883200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr5:36879400-36883400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:36879400-36883600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:36879400-36883600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr5:36879400-36885200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr5:36879400-36885200	Weak transcription	Fetal Thymus	thymus
27	chr5:36879400-36885400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:36879400-36885400	Weak transcription	Fetal Muscle Leg	muscle
29	chr5:36879400-36885400	Weak transcription	Fetal Stomach	stomach
30	chr5:36879400-36885400	Weak transcription	Right Ventricle	heart
31	chr5:36879400-36885600	Weak transcription	HSMM	muscle
32	chr5:36879400-36885800	Weak transcription	Psoas Muscle	Psoas
33	chr5:36879400-36887400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr5:36879600-36883600	Enhancers	Primary B cells from cord blood	blood
35	chr5:36879600-36889400	Weak transcription	HSMMtube	muscle
36	chr5:36879800-36882800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:36879800-36883200	Enhancers	Rectal Smooth Muscle	rectum
38	chr5:36879800-36884600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr5:36879800-36885000	Enhancers	Liver	Liver
40	chr5:36879800-36885200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:36879800-36885400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr5:36879800-36885400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:36879800-36885400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:36879800-36885400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:36879800-36885400	Weak transcription	Thymus	Thymus
46	chr5:36879800-36891400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr5:36880000-36882800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:36880000-36882800	Enhancers	Adipose Nuclei	Adipose
49	chr5:36880000-36885200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:36880000-36889000	Weak transcription	Brain Anterior Caudate	brain

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