Variant report

Variant	rs7253827
Chromosome Location	chr19:38814686-38814687
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	chr19:38805262..38808383-chr19:38813120..38816114,3	K562	blood:

Variant related genes	Relation type
ENSG00000167645	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10993	0.82[EUR][1000 genomes]
rs11878707	1.00[ASN][1000 genomes]
rs11880301	0.82[EUR][1000 genomes]
rs11880326	0.82[EUR][1000 genomes]
rs11880459	0.84[EUR][1000 genomes]
rs34614180	0.98[ASN][1000 genomes]
rs35077481	0.91[ASN][1000 genomes]
rs35323359	0.98[ASN][1000 genomes]
rs59648079	0.84[EUR][1000 genomes]
rs60163114	0.82[EUR][1000 genomes]
rs71354996	0.95[ASN][1000 genomes]
rs7249532	0.84[EUR][1000 genomes]
rs7260295	0.80[EUR][1000 genomes]
rs73030303	0.82[EUR][1000 genomes]
rs73030307	0.82[EUR][1000 genomes]
rs73030308	0.82[EUR][1000 genomes]
rs73030311	0.82[EUR][1000 genomes]
rs8111378	0.82[EUR][1000 genomes]
rs8112201	0.84[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	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription 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	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv960928	chr19:38790012-38822380	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38811200-38816800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:38811200-38817600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr19:38811200-38817600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr19:38811200-38826200	Weak transcription	Brain Anterior Caudate	brain
5	chr19:38811200-38826600	Weak transcription	Brain Substantia Nigra	brain
6	chr19:38811400-38817200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:38811400-38825600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr19:38811600-38819800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr19:38811800-38815200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr19:38811800-38817400	Weak transcription	Small Intestine	intestine
11	chr19:38811800-38823000	Weak transcription	Brain Angular Gyrus	brain
12	chr19:38812000-38817400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:38812000-38826000	Weak transcription	Fetal Thymus	thymus
14	chr19:38812000-38826600	Weak transcription	HUVEC	blood vessel
15	chr19:38812200-38816200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr19:38812200-38816200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr19:38812200-38816800	Weak transcription	Primary B cells from cord blood	blood
18	chr19:38812200-38817800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr19:38812200-38823800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr19:38812200-38826400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr19:38812200-38826600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:38812400-38815000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr19:38812400-38815000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:38812400-38815000	Weak transcription	Fetal Intestine Small	intestine
25	chr19:38812400-38816000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr19:38812400-38816200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:38812400-38817200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr19:38812400-38817400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:38812400-38817400	Weak transcription	Liver	Liver
30	chr19:38812400-38817600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:38812400-38817600	Weak transcription	Left Ventricle	heart
32	chr19:38812400-38826400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr19:38812400-38826400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr19:38812400-38826400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr19:38812600-38815000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:38812600-38815000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr19:38812600-38815000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr19:38812600-38815000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr19:38812600-38815000	Weak transcription	Gastric	stomach
40	chr19:38812600-38815000	Weak transcription	Lung	lung
41	chr19:38812600-38815000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr19:38812600-38815200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr19:38812600-38816000	Weak transcription	Colonic Mucosa	Colon
44	chr19:38812600-38816400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr19:38812600-38817200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr19:38812600-38817200	Weak transcription	Thymus	Thymus
47	chr19:38812600-38817400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr19:38812600-38817600	Weak transcription	Brain Hippocampus Middle	brain
49	chr19:38812600-38817600	Weak transcription	Fetal Muscle Leg	muscle
50	chr19:38812600-38818200	Weak transcription	HSMM	muscle

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