Variant report

Variant	rs1975178
Chromosome Location	chr19:42947865-42947866
allele	C/T
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	FOXA1	chr19:42947850-42948515	HepG2	liver:	n/a	n/a
2	FOXA2	chr19:42947826-42948637	HepG2	liver:	n/a	n/a
3	ESR1	chr19:42947704-42948050	T-47D	breast:	n/a	n/a
4	FOXA2	chr19:42947685-42948507	A549	lung:	n/a	n/a
5	HEY1	chr19:42947809-42948698	HepG2	liver:	n/a	n/a
6	ESR1	chr19:42947702-42948001	T-47D	breast:	n/a	n/a
7	POLR2A	chr19:42947766-42948002	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
CXCL17	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10402559	1.00[EUR][1000 genomes]
rs10407596	1.00[EUR][1000 genomes]
rs10425757	1.00[EUR][1000 genomes]
rs11878991	1.00[EUR][1000 genomes]
rs11879456	1.00[EUR][1000 genomes]
rs11883406	1.00[EUR][1000 genomes]
rs11883425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28514529	1.00[EUR][1000 genomes]
rs35190409	1.00[EUR][1000 genomes]
rs36024215	1.00[EUR][1000 genomes]
rs41363350	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45439592	1.00[EUR][1000 genomes]
rs45459094	1.00[EUR][1000 genomes]
rs45463194	1.00[EUR][1000 genomes]
rs45482593	1.00[EUR][1000 genomes]
rs45542141	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45551231	1.00[EUR][1000 genomes]
rs45583435	1.00[EUR][1000 genomes]
rs45617042	1.00[EUR][1000 genomes]
rs45618138	1.00[EUR][1000 genomes]
rs45620339	1.00[EUR][1000 genomes]
rs61739430	1.00[EUR][1000 genomes]
rs7246161	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7246227	1.00[EUR][1000 genomes]
rs7246591	1.00[EUR][1000 genomes]
rs73562334	1.00[EUR][1000 genomes]
rs73562336	1.00[EUR][1000 genomes]
rs8105027	1.00[EUR][1000 genomes]
rs8106654	1.00[EUR][1000 genomes]
rs9676326	0.92[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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42938000-42950200	Weak transcription	Gastric	stomach
2	chr19:42938000-42954200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr19:42945200-42948200	Weak transcription	Small Intestine	intestine
4	chr19:42945400-42948000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr19:42945400-42948200	Weak transcription	Colonic Mucosa	Colon
6	chr19:42945600-42948000	Enhancers	HepG2	liver
7	chr19:42945600-42948200	Weak transcription	Spleen	Spleen
8	chr19:42945800-42948200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr19:42945800-42950200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr19:42946000-42948200	Weak transcription	Fetal Lung	lung
11	chr19:42946200-42953600	Weak transcription	Adipose Nuclei	Adipose
12	chr19:42946400-42949000	Enhancers	Fetal Intestine Large	intestine
13	chr19:42946800-42948600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:42946800-42949000	Enhancers	Fetal Intestine Small	intestine
15	chr19:42946800-42949000	Enhancers	A549	lung
16	chr19:42946800-42949200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:42947000-42948200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr19:42947000-42948600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr19:42947000-42949000	Enhancers	Liver	Liver
20	chr19:42947000-42952800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr19:42947000-42952800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr19:42947000-42952800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:42947200-42948000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr19:42947200-42948200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr19:42947200-42948200	Weak transcription	Pancreas	Pancrea
26	chr19:42947200-42948400	Weak transcription	Esophagus	oesophagus
27	chr19:42947200-42950200	Weak transcription	Lung	lung
28	chr19:42947200-42950400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr19:42947200-42952200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:42947200-42953200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr19:42947200-42954400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr19:42947200-42954400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr19:42947200-42954400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:42947400-42949000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:42947600-42948000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr19:42947600-42950400	Enhancers	Stomach Mucosa	stomach

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