Variant report

Variant	rs332851
Chromosome Location	chr19:38645276-38645277
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38635598..38638307-chr19:38643288..38645497,2	K562	blood:
2	chr19:38635370..38638307-chr19:38643997..38646191,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10404957	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1654369	0.82[ASN][1000 genomes]
rs2005055	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2099340	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2384778	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2569412	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs332843	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs332844	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs332848	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs332849	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs332850	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs332855	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs332856	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs332858	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs332864	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35932728	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4802251	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6508765	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs705507	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8100128	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8100144	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8101826	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8109695	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8109799	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8111180	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8112798	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs855614	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs855632	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9941474	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38600600-38652800	Weak transcription	NHDF-Ad	bronchial
2	chr19:38611000-38652800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:38611600-38653000	Weak transcription	HUVEC	blood vessel
4	chr19:38611800-38653000	Weak transcription	Fetal Kidney	kidney
5	chr19:38613800-38652200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:38613800-38652600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr19:38616000-38652600	Strong transcription	Primary B cells from peripheral blood	blood
8	chr19:38617000-38652000	Strong transcription	Fetal Intestine Small	intestine
9	chr19:38618200-38651000	Strong transcription	Fetal Intestine Large	intestine
10	chr19:38619600-38647800	Strong transcription	Fetal Stomach	stomach
11	chr19:38624400-38652400	Weak transcription	Fetal Thymus	thymus
12	chr19:38626400-38652200	Strong transcription	A549	lung
13	chr19:38626800-38646000	Weak transcription	HMEC	breast
14	chr19:38627000-38652400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:38628400-38652600	Weak transcription	Right Atrium	heart
16	chr19:38628800-38646400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr19:38628800-38651200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:38629200-38652600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:38629600-38651600	Strong transcription	GM12878-XiMat	blood
20	chr19:38633000-38651000	Strong transcription	Primary B cells from cord blood	blood
21	chr19:38633000-38652400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr19:38633200-38652800	Weak transcription	Colon Smooth Muscle	Colon
23	chr19:38633400-38650800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:38633400-38653000	Weak transcription	Fetal Brain Male	brain
25	chr19:38635400-38652600	Weak transcription	Stomach Mucosa	stomach
26	chr19:38636600-38652600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:38637000-38652400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:38637000-38652800	Weak transcription	Brain Substantia Nigra	brain
29	chr19:38638200-38667200	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr19:38638400-38650600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr19:38639400-38646600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:38640000-38647000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr19:38640400-38646400	Strong transcription	Primary T cells from cord blood	blood
34	chr19:38640600-38646600	Strong transcription	Fetal Muscle Leg	muscle
35	chr19:38641600-38645800	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr19:38641600-38646400	Strong transcription	Osteobl	bone
37	chr19:38641600-38652800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr19:38641800-38646600	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr19:38641800-38649800	Strong transcription	Liver	Liver
40	chr19:38642000-38646400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:38642000-38646800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr19:38642000-38646800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:38642000-38646800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr19:38642200-38645800	Strong transcription	Spleen	Spleen
45	chr19:38642200-38646600	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr19:38642200-38646800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:38642600-38645800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr19:38642600-38646600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:38642800-38646600	Strong transcription	Thymus	Thymus
50	chr19:38642800-38650600	Strong transcription	Duodenum Smooth Muscle	Duodenum

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