Variant report

Variant	rs7257875
Chromosome Location	chr19:19372150-19372151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19371179..19375166-chr19:19377084..19380673,3	K562	blood:
2	chr19:19371281..19373352-chr19:19383019..19385169,2	K562	blood:
3	chr19:19371873..19374134-chr19:19452929..19454746,2	K562	blood:
4	chr19:19370401..19373352-chr19:19382111..19385169,3	K562	blood:
5	chr19:19370728..19372562-chr19:19430099..19431742,2	K562	blood:

Variant related genes	Relation type
ENSG00000213996	Chromatin interaction
ENSG00000105705	Chromatin interaction
ENSG00000129933	Chromatin interaction
ENSG00000267629	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10401714	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10403273	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10407933	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10414990	0.83[ASN][1000 genomes]
rs10417330	0.81[ASN][1000 genomes]
rs10422893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10423659	0.81[ASN][1000 genomes]
rs10423874	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1064395	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11555053	0.93[EUR][1000 genomes]
rs1557723	0.82[EUR][1000 genomes]
rs17216041	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17751061	0.90[EUR][1000 genomes]
rs1989867	0.82[EUR][1000 genomes]
rs2010506	0.95[EUR][1000 genomes]
rs2011503	0.82[EUR][1000 genomes]
rs2074295	0.94[AFR][1000 genomes]
rs2074302	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2315023	0.91[EUR][1000 genomes]
rs35854118	0.95[EUR][1000 genomes]
rs3752170	0.81[ASN][1000 genomes]
rs4239639	0.84[EUR][1000 genomes]
rs4563151	0.81[ASN][1000 genomes]
rs4808932	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4808933	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4808934	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4808944	0.91[EUR][1000 genomes]
rs55762233	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55765017	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55822665	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56044734	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56135441	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56144632	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56212061	0.85[EUR][1000 genomes]
rs56278919	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57436187	0.89[EUR][1000 genomes]
rs6511027	0.94[EUR][1000 genomes]
rs72999030	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72999059	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72999063	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72999068	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs756999	0.82[EUR][1000 genomes]
rs8100097	0.83[EUR][1000 genomes]
rs8108777	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs998732	0.83[AMR][1000 genomes];0.95[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	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	nsv911304	chr19:19303802-19408164	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	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
4	nsv911306	chr19:19366643-19391838	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7257875	SF4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19361600-19372200	Weak transcription	Brain Angular Gyrus	brain
2	chr19:19371400-19372200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:19371400-19372200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
4	chr19:19371400-19372200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:19371400-19372600	Bivalent Enhancer	Spleen	Spleen
6	chr19:19371400-19372800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr19:19371400-19372800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr19:19371400-19373000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr19:19371400-19374000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr19:19371400-19374000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr19:19371400-19374000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr19:19371600-19372200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:19371600-19372200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:19371600-19372400	Bivalent Enhancer	Esophagus	oesophagus
15	chr19:19371600-19372600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr19:19371600-19372800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
17	chr19:19371600-19373000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr19:19371600-19373000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr19:19371600-19373400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
20	chr19:19371600-19374000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr19:19371800-19372200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:19371800-19372200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr19:19371800-19372200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
24	chr19:19371800-19372200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:19371800-19372200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:19371800-19372200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
27	chr19:19371800-19372200	Bivalent Enhancer	Colonic Mucosa	Colon
28	chr19:19371800-19372200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
29	chr19:19371800-19372200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
30	chr19:19371800-19372200	Enhancers	Ovary	ovary
31	chr19:19371800-19372400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
32	chr19:19371800-19372400	Bivalent Enhancer	Adipose Nuclei	Adipose
33	chr19:19371800-19372400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr19:19371800-19372400	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr19:19371800-19372400	Bivalent Enhancer	Lung	lung
36	chr19:19371800-19372600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:19371800-19372600	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr19:19371800-19372600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:19371800-19372800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr19:19371800-19372800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
41	chr19:19371800-19372800	Enhancers	Fetal Brain Male	brain
42	chr19:19371800-19373000	Bivalent/Poised TSS	Right Ventricle	heart
43	chr19:19371800-19373200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr19:19371800-19373400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr19:19371800-19373600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr19:19371800-19374000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
47	chr19:19371800-19374200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:19372000-19372200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr19:19372000-19372200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
50	chr19:19372000-19372200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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