Variant report

Variant	rs10423047
Chromosome Location	chr19:42950302-42950303
allele	A/C
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	POLR2A	chr19:42950251-42950451	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42948792..42951682-chr19:42987140..42989060,2	K562	blood:

Variant related genes	Relation type
CXCL17	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10405891	1.00[EUR][1000 genomes]
rs10411253	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10414969	1.00[EUR][1000 genomes]
rs10416062	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10417560	1.00[EUR][1000 genomes]
rs10422000	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423136	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10425139	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13345659	1.00[EUR][1000 genomes]
rs16975743	1.00[EUR][1000 genomes]
rs16975750	1.00[EUR][1000 genomes]
rs16975751	1.00[YRI][hapmap]
rs28448880	1.00[EUR][1000 genomes]
rs28514561	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35623577	1.00[EUR][1000 genomes]
rs7245385	0.85[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7248439	1.00[EUR][1000 genomes]
rs7251638	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7252470	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7254369	0.88[YRI][hapmap];0.86[AFR][1000 genomes]
rs7254839	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7255015	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556352	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556356	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8102976	0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8103108	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42938000-42954200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr19:42946200-42953600	Weak transcription	Adipose Nuclei	Adipose
3	chr19:42947000-42952800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:42947000-42952800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr19:42947000-42952800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:42947200-42950400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr19:42947200-42952200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:42947200-42953200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr19:42947200-42954400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr19:42947200-42954400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr19:42947200-42954400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:42947600-42950400	Enhancers	Stomach Mucosa	stomach
13	chr19:42948200-42950400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:42948200-42951800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr19:42948200-42953000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr19:42948200-42956800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr19:42948600-42952800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr19:42948600-42953600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr19:42948600-42953800	Weak transcription	Colonic Mucosa	Colon
20	chr19:42948600-42954400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:42949000-42950400	Enhancers	HepG2	liver
22	chr19:42949000-42951200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:42949000-42952600	Weak transcription	A549	lung
24	chr19:42949000-42953800	Weak transcription	Liver	Liver
25	chr19:42949000-42953800	Weak transcription	Fetal Intestine Large	intestine
26	chr19:42949000-42953800	Weak transcription	Fetal Intestine Small	intestine
27	chr19:42949000-42954400	Weak transcription	Pancreas	Pancrea
28	chr19:42949800-42954200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr19:42950000-42952400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:42950200-42950400	Enhancers	Gastric	stomach
31	chr19:42950200-42950400	Enhancers	Lung	lung
32	chr19:42950200-42955400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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