Variant report

Variant	rs10494950
Chromosome Location	chr1:212327026-212327027
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212319256..212321258-chr1:212324558..212327324,3	K562	blood:
2	chr1:212323808..212327090-chr1:212336876..212338503,3	K562	blood:
3	chr1:212325848..212328405-chr1:212392780..212395278,2	K562	blood:
4	chr1:212321261..212322830-chr1:212323122..212327254,4	K562	blood:
5	chr1:212325528..212328341-chr1:212462025..212464406,2	K562	blood:
6	chr1:212325464..212333414-chr1:212456079..212461375,10	K562	blood:
7	chr1:212325199..212329163-chr1:212330168..212333367,6	K562	blood:
8	chr1:212324540..212327607-chr1:212329235..212333367,6	K562	blood:
9	chr1:212324486..212328323-chr1:212335764..212338503,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000066027	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10494949	0.82[CEU][hapmap]
rs17018310	0.82[CEU][hapmap];1.00[GIH][hapmap]
rs17018311	0.82[CEU][hapmap]
rs17018335	0.82[CEU][hapmap]
rs17018375	0.82[CEU][hapmap];1.00[GIH][hapmap]
rs17018426	0.82[CEU][hapmap];1.00[GIH][hapmap]
rs1933594	0.82[CEU][hapmap]
rs2358385	0.82[CEU][hapmap];1.00[GIH][hapmap]
rs41502452	0.82[CEU][hapmap];1.00[GIH][hapmap]

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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10494950	LPGAT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212309000-212347200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:212314400-212332200	Weak transcription	Dnd41	blood
3	chr1:212320400-212332400	Weak transcription	Gastric	stomach
4	chr1:212321200-212330800	Weak transcription	Fetal Thymus	thymus
5	chr1:212323600-212335800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:212324200-212327200	Enhancers	Primary hematopoietic stem cells	blood
7	chr1:212324600-212340400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:212325400-212327200	Enhancers	HUVEC	blood vessel
9	chr1:212325400-212327600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:212325600-212327200	Enhancers	Stomach Mucosa	stomach
11	chr1:212326000-212327400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:212326000-212327600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:212326000-212327600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:212326000-212328400	Weak transcription	Right Atrium	heart
15	chr1:212326000-212332400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:212326000-212332400	Weak transcription	Right Ventricle	heart
17	chr1:212326400-212332400	Weak transcription	Left Ventricle	heart
18	chr1:212326400-212335000	Weak transcription	Small Intestine	intestine
19	chr1:212326600-212327600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr1:212326600-212327800	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr1:212326600-212332200	Weak transcription	Lung	lung
22	chr1:212326800-212327200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr1:212326800-212327200	Enhancers	Duodenum Mucosa	Duodenum
24	chr1:212326800-212330200	Weak transcription	Colonic Mucosa	Colon
25	chr1:212327000-212327600	Flanking Active TSS	K562	blood
26	chr1:212327000-212328400	Enhancers	Rectal Mucosa Donor 31	rectum

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