Variant report

Variant	rs1063280
Chromosome Location	chr6:30140342-30140343
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs3094079	0.86[AFR][1000 genomes]
rs3094137	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3094138	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3130385	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3130390	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4476873	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959045	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9261541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261542	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261547	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9261558	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9261588	0.86[AFR][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1063280	ZKSCAN3	cis	cerebellum	SCAN
rs1063280	HCG22	cis	lymphoblastoid	seeQTL
rs1063280	ZNF187	cis	parietal	SCAN
rs1063280	PRSS16	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30135600-30141200	Strong transcription	HepG2	liver
2	chr6:30139000-30152000	Weak transcription	Liver	Liver
3	chr6:30139400-30140400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:30139400-30140400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr6:30139400-30140400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr6:30139400-30140400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:30139400-30140400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr6:30139400-30140400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr6:30139400-30140400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:30139400-30140400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:30139400-30140400	Bivalent Enhancer	Esophagus	oesophagus
12	chr6:30139400-30140600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr6:30139400-30140800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
14	chr6:30139600-30140400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr6:30139600-30140400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
16	chr6:30139600-30140400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:30139600-30140400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:30139600-30140400	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr6:30139600-30140400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
20	chr6:30139600-30140600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:30139600-30140600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr6:30139800-30140400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:30139800-30140400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
24	chr6:30139800-30140400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
25	chr6:30139800-30140400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
26	chr6:30139800-30140400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
27	chr6:30140000-30140400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:30140000-30140400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
29	chr6:30140000-30140400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr6:30140000-30140400	Bivalent Enhancer	NH-A	brain
31	chr6:30140000-30140600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:30140000-30140800	Bivalent Enhancer	Fetal Thymus	thymus
33	chr6:30140200-30140400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
34	chr6:30140200-30140400	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:30140200-30140400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
36	chr6:30140200-30140400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:30140200-30140400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:30140200-30140400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:30140200-30140400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr6:30140200-30140400	Bivalent Enhancer	Fetal Stomach	stomach
41	chr6:30140200-30140400	Bivalent Enhancer	Psoas Muscle	Psoas
42	chr6:30140200-30140400	Bivalent/Poised TSS	Right Ventricle	heart
43	chr6:30140200-30140600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:30140200-30140800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell

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