Variant report

Variant	rs12609706
Chromosome Location	chr19:40850247-40850248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40825864..40828845-chr19:40848574..40850485,2	K562	blood:
2	chr19:40846921..40852460-chr19:40852861..40856555,6	K562	blood:

Variant related genes	Relation type
ENSG00000105223	Chromatin interaction
ENSG00000160392	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10414431	0.85[ASN][1000 genomes]
rs11668242	0.95[ASN][1000 genomes]
rs11880261	0.86[ASN][1000 genomes]
rs4239506	0.86[ASN][1000 genomes]
rs4257318	0.95[ASN][1000 genomes]
rs4277441	0.81[ASN][1000 genomes]
rs4332845	0.81[ASN][1000 genomes]
rs4337402	0.95[ASN][1000 genomes]
rs4499338	0.88[ASN][1000 genomes]
rs4802073	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4802074	0.87[ASN][1000 genomes]
rs6508936	0.95[ASN][1000 genomes]
rs7248338	0.92[ASN][1000 genomes]
rs7249146	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7250897	0.84[ASN][1000 genomes]
rs7255581	0.95[ASN][1000 genomes]
rs7257972	0.98[ASN][1000 genomes]
rs7260106	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7260517	0.82[ASN][1000 genomes]
rs8102171	0.84[ASN][1000 genomes]
rs8104727	0.81[ASN][1000 genomes]
rs8110888	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs969531	0.82[ASN][1000 genomes]
rs9749283	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer 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	35 gene(s)	inside rSNPs	diseases
3	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	esv2754051	chr19:40848081-40863842	Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40822000-40851000	Strong transcription	Fetal Stomach	stomach
2	chr19:40826600-40853000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr19:40832200-40852800	Weak transcription	NHDF-Ad	bronchial
4	chr19:40834400-40853400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:40834800-40853600	Weak transcription	Small Intestine	intestine
6	chr19:40836000-40853600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:40837400-40853400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr19:40837400-40853600	Weak transcription	Stomach Mucosa	stomach
9	chr19:40839800-40852800	Weak transcription	Hela-S3	cervix
10	chr19:40839800-40853400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:40840000-40852800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr19:40840000-40852800	Weak transcription	HUVEC	blood vessel
13	chr19:40840000-40853400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr19:40840000-40853600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:40840200-40850400	Weak transcription	Osteobl	bone
16	chr19:40840200-40852800	Weak transcription	HepG2	liver
17	chr19:40840400-40850800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr19:40840400-40852800	Weak transcription	Fetal Kidney	kidney
19	chr19:40840400-40853000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:40840400-40853000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr19:40840400-40853000	Weak transcription	Fetal Brain Male	brain
22	chr19:40840400-40853400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr19:40841400-40853000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr19:40842200-40852800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr19:40842200-40853200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr19:40842200-40853600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr19:40842200-40853600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:40842400-40850600	Weak transcription	Brain Substantia Nigra	brain
29	chr19:40842400-40852800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr19:40842400-40853000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr19:40842400-40853000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr19:40842400-40853400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr19:40842400-40853600	Weak transcription	Fetal Intestine Large	intestine
34	chr19:40842400-40853600	Weak transcription	Ovary	ovary
35	chr19:40842600-40853400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr19:40842800-40850400	Weak transcription	Esophagus	oesophagus
37	chr19:40842800-40853000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:40842800-40853600	Weak transcription	Pancreas	Pancrea
39	chr19:40843000-40850400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr19:40843000-40853000	Weak transcription	NH-A	brain
41	chr19:40843000-40853400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr19:40845400-40852800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:40845400-40853000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr19:40845400-40853200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr19:40845600-40852800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr19:40845600-40852800	Weak transcription	Liver	Liver
47	chr19:40845600-40852800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr19:40845600-40853000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:40845600-40853200	Weak transcription	Primary B cells from cord blood	blood
50	chr19:40845600-40853400	Weak transcription	Fetal Lung	lung

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