Variant report

Variant	rs1573992
Chromosome Location	chr6:143488566-143488567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:143266152..143268661-chr6:143488138..143490358,2	K562	blood:
2	chr6:143465355..143467175-chr6:143487924..143490371,2	K562	blood:
3	chr6:143379898..143383638-chr6:143483833..143489108,8	K562	blood:
4	chr6:143376645..143379470-chr6:143487556..143490248,2	K562	blood:
5	chr6:143394228..143397052-chr6:143487227..143488886,2	K562	blood:

Variant related genes	Relation type
ENSG00000010818	Chromatin interaction
ENSG00000146416	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2328454	0.86[EUR][1000 genomes]
rs2328455	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs6908441	0.91[CEU][hapmap];0.84[GIH][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs7754866	0.87[CEU][hapmap]
rs9403450	0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9403452	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs9403455	0.91[CEU][hapmap];0.84[GIH][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs9403458	0.91[CEU][hapmap];0.84[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1573992	C6orf94	cis	cerebellum	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143443800-143498800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:143444600-143516400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:143452000-143497000	Weak transcription	Fetal Stomach	stomach
4	chr6:143453000-143497200	Weak transcription	Pancreas	Pancrea
5	chr6:143453000-143508600	Weak transcription	Fetal Lung	lung
6	chr6:143453000-143510600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:143458800-143529200	Weak transcription	Primary T cells from cord blood	blood
8	chr6:143459600-143505400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:143462200-143497800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:143463000-143508400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:143477000-143501200	Weak transcription	Right Atrium	heart
12	chr6:143479600-143496000	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:143479600-143497200	Weak transcription	Esophagus	oesophagus
14	chr6:143479600-143499400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:143479600-143508600	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:143479600-143534600	Weak transcription	Gastric	stomach
17	chr6:143480200-143501200	Weak transcription	Brain Angular Gyrus	brain
18	chr6:143480400-143497200	Weak transcription	Lung	lung
19	chr6:143480600-143490400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:143481800-143497000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:143481800-143497600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:143482200-143488800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:143482200-143497200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:143482400-143511200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr6:143482600-143488600	Weak transcription	NHDF-Ad	bronchial
26	chr6:143484200-143489000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr6:143484200-143500000	Weak transcription	Fetal Heart	heart
28	chr6:143484400-143494200	Weak transcription	Fetal Intestine Small	intestine
29	chr6:143484400-143519800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr6:143485200-143497000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:143485200-143509400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr6:143485800-143490800	Strong transcription	Liver	Liver
33	chr6:143485800-143491200	Strong transcription	HepG2	liver
34	chr6:143486000-143492000	Weak transcription	Psoas Muscle	Psoas
35	chr6:143486000-143501400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr6:143486000-143510400	Weak transcription	Brain Anterior Caudate	brain
37	chr6:143486200-143488600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr6:143486800-143488800	Transcr. at gene 5' and 3'	K562	blood
39	chr6:143487000-143488600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:143487000-143497000	Weak transcription	Aorta	Aorta
41	chr6:143487000-143516600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr6:143487200-143492800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr6:143487200-143506400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr6:143487400-143488600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr6:143487600-143488600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:143487600-143496200	Weak transcription	Fetal Intestine Large	intestine
47	chr6:143487600-143497200	Weak transcription	Osteobl	bone
48	chr6:143487600-143508600	Weak transcription	Ovary	ovary
49	chr6:143487600-143518000	Weak transcription	Fetal Kidney	kidney
50	chr6:143487800-143492800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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