Variant report

Variant	rs73931233
Chromosome Location	chr19:36106023-36106024
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36105988-36106198	K562	blood:	n/a	n/a
2	POLR2A	chr19:36105812-36106326	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36105986-36106036	SAEC	small airway:	n/a
2	chr19:36105986-36106036	IMR90	lung:	fetal
3	chr19:36105986-36106036	AG09319	gingival:	n/a
4	chr19:36105986-36106036	H1-hESC	embryonic stem cell:	embryo
5	chr19:36105986-36106036	PFSK-1	brain:	n/a
6	chr19:36105986-36106036	AG04449	skin:	fetal
7	chr19:36105986-36106036	GM12892	blood:	n/a
8	chr19:36105986-36106036	MCF10A-Er-Src	breast:	n/a
9	chr19:36105986-36106036	SK-N-MC	brain:	n/a
10	chr19:36105986-36106036	ProgFib	skin:	n/a
11	chr19:36105986-36106036	GM12878	blood:	n/a
12	chr19:36105986-36106036	MCF-7	breast:	n/a
13	chr19:36105986-36106036	HRE	kidney:	n/a
14	chr19:36105986-36106036	HUVEC	blood vessel:	n/a
15	chr19:36105986-36106036	BJ	skin:	n/a
16	chr19:36105986-36106036	HCM	heart:	n/a
17	chr19:36105986-36106036	HIPEpiC	eye:	n/a
18	chr19:36105986-36106036	HMEC	breast:	n/a
19	chr19:36105986-36106036	HRPEpiC	eye:	n/a
20	chr19:36105986-36106036	HL-60	blood:	n/a
21	chr19:36105986-36106036	HCF	heart:	n/a
22	chr19:36105986-36106036	PANC-1	pancreas:	n/a
23	chr19:36105986-36106036	ovcar-3	ovarian:	n/a
24	chr19:36105986-36106036	Caco-2	colon:	n/a
25	chr19:36105986-36106036	PrEC	prostate:	n/a
26	chr19:36105986-36106036	HCT-116	colon:	n/a
27	chr19:36105986-36106036	NT2-D1	testis:	n/a
28	chr19:36105986-36106036	ECC-1	luminal epithelium:	n/a
29	chr19:36105986-36106036	GM06990	blood:	n/a
30	chr19:36105986-36106036	K562	blood:	n/a
31	chr19:36105986-36106036	GM12891	blood:	n/a
32	chr19:36105986-36106036	AG10803	skin:	n/a
33	chr19:36105986-36106036	T-47D	breast:	n/a
34	chr19:36105986-36106036	Hela-S3	cervix:	n/a
35	chr19:36105986-36106036	AoSMC	blood vessel:	n/a
36	chr19:36105986-36106036	NH-A	brain:	n/a
37	chr19:36105986-36106036	HCPEpiC	choroid plexus:	n/a
38	chr19:36105986-36106036	NHDF-neo	bronchial:	n/a
39	chr19:36105986-36106036	NHBE	bronchial:	n/a
40	chr19:36105986-36106036	GM19239	blood:	n/a
41	chr19:36105986-36106036	HRCEpiC	kidney:	n/a
42	chr19:36105986-36106036	SK-N-SH	brain:	n/a
43	chr19:36105986-36106036	SK-N-SH_RA	brain:	n/a
44	chr19:36105986-36106036	BE2_C	brain:	n/a
45	chr19:36105986-36106036	LNCaP	prostate:	n/a
46	chr19:36105986-36106036	AG09309	skin:	n/a
47	chr19:36105986-36106036	HNPCEpiC	eye:	n/a
48	chr19:36105986-36106036	SKMC	muscle:	n/a
49	chr19:36105986-36106036	Jurkat	blood:	n/a
50	chr19:36105986-36106036	HEEpiC	esophagus:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36099231..36101365-chr19:36104806..36106738,2	K562	blood:
2	chr19:36103494..36107429-chr19:36109770..36112878,4	MCF-7	breast:
3	chr19:36104768..36106692-chr19:36109509..36111994,2	MCF-7	breast:
4	chr19:36105388..36109287-chr19:36131670..36134423,3	MCF-7	breast:
5	chr19:36104355..36106456-chr19:36114819..36117211,2	MCF-7	breast:
6	chr19:36105395..36107902-chr19:36112782..36114444,2	MCF-7	breast:
7	chr19:36105605..36107645-chr19:36117963..36120587,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267626	TF binding region
HAUS5	TF binding region
ENSG00000267626	CpG island
HAUS5	CpG island
ENSG00000126254	Chromatin interaction
ENSG00000249115	Chromatin interaction
ENSG00000105672	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1262746	1.00[AMR][1000 genomes]
rs1262750	1.00[AMR][1000 genomes]
rs1262751	1.00[AMR][1000 genomes]
rs179569	1.00[AMR][1000 genomes]
rs231215	1.00[AMR][1000 genomes]
rs231219	1.00[AMR][1000 genomes]
rs231220	1.00[AMR][1000 genomes]
rs231224	1.00[AMR][1000 genomes]
rs231239	1.00[AMR][1000 genomes]
rs231240	1.00[AMR][1000 genomes]
rs231587	1.00[AMR][1000 genomes]
rs231595	1.00[AMR][1000 genomes]
rs2428145	1.00[AMR][1000 genomes]
rs2520310	1.00[AMR][1000 genomes]
rs807490	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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36104200-36106200	Weak transcription	Esophagus	oesophagus
2	chr19:36104200-36107600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:36104200-36109200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:36104200-36118800	Weak transcription	Left Ventricle	heart
5	chr19:36104200-36119000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:36104200-36119000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:36104200-36119000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr19:36104200-36119000	Weak transcription	Colonic Mucosa	Colon
9	chr19:36104200-36119000	Weak transcription	Psoas Muscle	Psoas
10	chr19:36104200-36119000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr19:36104200-36119000	Weak transcription	HSMMtube	muscle
12	chr19:36104200-36119200	Weak transcription	Aorta	Aorta
13	chr19:36104400-36106200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr19:36104400-36106200	Weak transcription	Primary B cells from cord blood	blood
15	chr19:36104400-36106200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr19:36104400-36106200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:36104400-36106200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:36104400-36106200	Weak transcription	Brain Angular Gyrus	brain
19	chr19:36104400-36106600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr19:36104400-36107400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr19:36104400-36107600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:36104400-36107600	Weak transcription	HepG2	liver
23	chr19:36104400-36107600	Weak transcription	NHEK	skin
24	chr19:36104400-36107800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr19:36104400-36107800	Weak transcription	Fetal Kidney	kidney
26	chr19:36104400-36108000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr19:36104400-36109000	Weak transcription	Right Ventricle	heart
28	chr19:36104400-36111000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr19:36104400-36118800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr19:36104400-36118800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr19:36104400-36118800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr19:36104400-36118800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr19:36104400-36119000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:36104400-36119000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr19:36104400-36119000	Weak transcription	Colon Smooth Muscle	Colon
36	chr19:36104400-36119000	Weak transcription	Small Intestine	intestine
37	chr19:36104400-36119000	Weak transcription	HSMM	muscle
38	chr19:36104400-36119000	Weak transcription	HUVEC	blood vessel
39	chr19:36104400-36119000	Weak transcription	NHDF-Ad	bronchial
40	chr19:36104400-36119000	Weak transcription	Osteobl	bone
41	chr19:36104400-36119200	Weak transcription	NH-A	brain
42	chr19:36104600-36106200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr19:36104600-36106400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:36104600-36106400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr19:36104600-36106600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr19:36104600-36110600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:36104600-36111200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:36104600-36114200	Strong transcription	Fetal Intestine Small	intestine
49	chr19:36104800-36106200	Weak transcription	GM12878-XiMat	blood
50	chr19:36104800-36107800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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