Variant report

Variant	rs57436187
Chromosome Location	chr19:19429915-19429916
allele	C/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:11)
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	chr19:19429733-19430055	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:19429773-19430524	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:19429893-19429943	IMR90	lung:	fetal
2	chr19:19429893-19429943	H1-hESC	embryonic stem cell:	embryo
3	chr19:19429893-19429943	T-47D	breast:	n/a
4	chr19:19429893-19429943	PANC-1	pancreas:	n/a
5	chr19:19429893-19429943	HCF	heart:	n/a
6	chr19:19429893-19429943	CMK	blood:	n/a
7	chr19:19429893-19429943	Caco-2	colon:	n/a
8	chr19:19429893-19429943	BJ	skin:	n/a
9	chr19:19429893-19429943	GM12891	blood:	n/a
10	chr19:19429893-19429943	SKMC	muscle:	n/a
11	chr19:19429893-19429943	MCF10A-Er-Src	breast:	n/a
12	chr19:19429893-19429943	HRPEpiC	eye:	n/a
13	chr19:19429893-19429943	HMEC	breast:	n/a
14	chr19:19429893-19429943	NHDF-neo	bronchial:	n/a
15	chr19:19429893-19429943	HIPEpiC	eye:	n/a
16	chr19:19429893-19429943	Jurkat	blood:	n/a
17	chr19:19429893-19429943	PFSK-1	brain:	n/a
18	chr19:19429893-19429943	HAEpiC	amniotic membrane:	n/a
19	chr19:19429893-19429943	NH-A	brain:	n/a
20	chr19:19429893-19429943	HPAEpiC	pulmonary alveolar:	n/a
21	chr19:19429893-19429943	SAEC	small airway:	n/a
22	chr19:19429893-19429943	AG04449	skin:	fetal
23	chr19:19429893-19429943	MCF-7	breast:	n/a
24	chr19:19429893-19429943	AG09309	skin:	n/a
25	chr19:19429893-19429943	HL-60	blood:	n/a
26	chr19:19429893-19429943	HCPEpiC	choroid plexus:	n/a
27	chr19:19429893-19429943	HEEpiC	esophagus:	n/a
28	chr19:19429893-19429943	NHBE	bronchial:	n/a
29	chr19:19429893-19429943	GM19239	blood:	n/a
30	chr19:19429893-19429943	SK-N-SH	brain:	n/a
31	chr19:19429893-19429943	Hepatocyte	liver:	n/a
32	chr19:19429893-19429943	GM06990	blood:	n/a
33	chr19:19429893-19429943	BE2_C	brain:	n/a
34	chr19:19429893-19429943	Hela-S3	cervix:	n/a
35	chr19:19429893-19429943	AG04450	lung:	fetal
36	chr19:19429893-19429943	HEK293	kidney:	embryo
37	chr19:19429893-19429943	NB4	blood:	n/a
38	chr19:19429893-19429943	GM12892	blood:	n/a
39	chr19:19429893-19429943	HUVEC	blood vessel:	n/a
40	chr19:19429893-19429943	ProgFib	skin:	n/a
41	chr19:19429893-19429943	SK-N-SH_RA	brain:	n/a
42	chr19:19429893-19429943	HRCEpiC	kidney:	n/a
43	chr19:19429893-19429943	HRE	kidney:	n/a
44	chr19:19429893-19429943	U87	brain:	n/a
45	chr19:19429893-19429943	AG09319	gingival:	n/a
46	chr19:19429893-19429943	HepG2	liver:	n/a
47	chr19:19429893-19429943	NT2-D1	testis:	n/a
48	chr19:19429893-19429943	AoSMC	blood vessel:	n/a
49	chr19:19429893-19429943	PrEC	prostate:	n/a
50	chr19:19429893-19429943	HCM	heart:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19301698..19303429-chr19:19429828..19432129,2	MCF-7	breast:
2	chr19:19413906..19419021-chr19:19429875..19434162,7	K562	blood:
3	chr19:19429869..19431388-chr19:19451863..19454353,3	MCF-7	breast:
4	chr19:19409469..19413871-chr19:19428728..19432308,7	K562	blood:
5	chr19:19428553..19432587-chr19:19515649..19520173,6	K562	blood:
6	chr19:19301845..19303815-chr19:19429491..19431433,2	K562	blood:
7	chr19:19280114..19282646-chr19:19429552..19431405,2	MCF-7	breast:
8	chr19:19423866..19426693-chr19:19428690..19430948,2	MCF-7	breast:
9	chr19:19429717..19431610-chr19:19457097..19460647,3	K562	blood:
10	chr19:19301203..19304689-chr19:19429627..19432561,5	MCF-7	breast:
11	chr19:19304004..19306841-chr19:19429725..19433437,3	MCF-7	breast:

No data

Variant related genes	Relation type
MAU2	TF binding region
MAU2	CpG island
ENSG00000129933	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000064489	Chromatin interaction
ENSG00000105705	Chromatin interaction
ENSG00000213999	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000167491	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10401714	0.88[EUR][1000 genomes]
rs10403273	0.88[EUR][1000 genomes]
rs10406278	0.88[AMR][1000 genomes]
rs10407933	0.88[EUR][1000 genomes]
rs10422893	0.89[EUR][1000 genomes]
rs10423874	0.88[EUR][1000 genomes]
rs1064395	0.88[EUR][1000 genomes]
rs11555053	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1557723	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17216041	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17751061	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1989867	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2010506	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2011503	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2074302	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2315023	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2860494	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2905429	0.89[AMR][1000 genomes]
rs2905433	0.80[AMR][1000 genomes]
rs2916070	0.82[AMR][1000 genomes]
rs2965179	0.86[AMR][1000 genomes]
rs2965181	0.86[AMR][1000 genomes]
rs2965190	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2965195	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2965201	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34487417	0.86[AMR][1000 genomes]
rs35854118	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4239639	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4808932	0.88[EUR][1000 genomes]
rs4808933	0.88[EUR][1000 genomes]
rs4808934	0.87[EUR][1000 genomes]
rs4808944	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55762233	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55765017	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55822665	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56044734	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56135441	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56144632	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56212061	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56278919	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56291054	0.86[AMR][1000 genomes]
rs6511027	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6511029	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7257875	0.89[EUR][1000 genomes]
rs72999030	0.88[EUR][1000 genomes]
rs72999059	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72999063	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72999068	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs756997	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs756999	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8100097	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8108777	0.88[EUR][1000 genomes]
rs8111093	0.82[AMR][1000 genomes]
rs998732	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][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	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1056419	chr19:19421218-19510611	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57436187	SF4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19384400-19430600	Weak transcription	Right Atrium	heart
2	chr19:19390800-19430000	Weak transcription	Psoas Muscle	Psoas
3	chr19:19416200-19430000	Weak transcription	Fetal Brain Male	brain
4	chr19:19419600-19430200	Weak transcription	NH-A	brain
5	chr19:19421400-19430200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr19:19421400-19430200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr19:19421600-19430000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:19421600-19430000	Weak transcription	A549	lung
9	chr19:19421600-19430000	Weak transcription	HMEC	breast
10	chr19:19421600-19430000	Weak transcription	HSMMtube	muscle
11	chr19:19421600-19430200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr19:19421800-19430200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:19424200-19430000	Weak transcription	Fetal Kidney	kidney
14	chr19:19425600-19430000	Weak transcription	HSMM	muscle
15	chr19:19426600-19430200	Weak transcription	NHDF-Ad	bronchial
16	chr19:19427200-19430000	Weak transcription	Colon Smooth Muscle	Colon
17	chr19:19427200-19430000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:19427200-19430200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr19:19427200-19430200	Weak transcription	Esophagus	oesophagus
20	chr19:19427400-19430000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:19427400-19430000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:19427400-19430000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr19:19427400-19430000	Weak transcription	Adipose Nuclei	Adipose
24	chr19:19427400-19430000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr19:19427400-19430000	Weak transcription	Colonic Mucosa	Colon
26	chr19:19427400-19430000	Weak transcription	Left Ventricle	heart
27	chr19:19427400-19430000	Weak transcription	Ovary	ovary
28	chr19:19427400-19430000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr19:19427400-19430200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr19:19427400-19430200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr19:19427400-19430200	Weak transcription	Fetal Heart	heart
32	chr19:19427400-19430200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr19:19427400-19430200	Weak transcription	Osteobl	bone
34	chr19:19427400-19430600	Weak transcription	Aorta	Aorta
35	chr19:19427600-19430000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:19427600-19430000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:19427600-19430000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr19:19427600-19430000	Weak transcription	Primary T cells from cord blood	blood
39	chr19:19427600-19430000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:19427600-19430000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr19:19427600-19430000	Weak transcription	Brain Germinal Matrix	brain
42	chr19:19427600-19430000	Weak transcription	Fetal Intestine Large	intestine
43	chr19:19427600-19430000	Weak transcription	Fetal Muscle Leg	muscle
44	chr19:19427600-19430000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr19:19427600-19430000	Weak transcription	HUVEC	blood vessel
46	chr19:19427600-19430000	Weak transcription	NHEK	skin
47	chr19:19427600-19430200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr19:19427800-19430000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr19:19427800-19430000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr19:19427800-19430000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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