Variant report

Variant	rs1218603
Chromosome Location	chr1:154789875-154789876
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	chr1:154783206..154785391-chr1:154789326..154792302,2	K562	blood:
2	chr1:154783206..154790651-chr1:154790786..154795764,8	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1010225	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
3	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv470740	chr1:154568683-154796895	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv464050	chr1:154568683-154801247	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv547958	chr1:154568683-154801247	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs1218603	RXFP4	cis	cerebellum	SCAN
rs1218603	MUC1	cis	cerebellum	SCAN
rs1218603	RAG1AP1	cis	parietal	SCAN
rs1218603	ANXA9	cis	parietal	SCAN
rs1218603	SNAPIN	cis	parietal	SCAN
rs1218603	LCE3C	cis	parietal	SCAN
rs1218603	LCE3B	cis	parietal	SCAN
rs1218603	SPRR2G	cis	cerebellum	SCAN
rs1218603	EFNA3	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154783200-154792600	Weak transcription	Lung	lung
2	chr1:154785600-154792600	Weak transcription	Right Atrium	heart
3	chr1:154786200-154794800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:154786600-154791000	Weak transcription	Right Ventricle	heart
5	chr1:154786600-154792200	Weak transcription	Left Ventricle	heart
6	chr1:154786600-154794000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:154786600-154801800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:154786800-154791400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:154786800-154792600	Weak transcription	Esophagus	oesophagus
10	chr1:154786800-154795200	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:154787000-154792000	Weak transcription	Brain Anterior Caudate	brain
12	chr1:154787000-154792000	Weak transcription	Gastric	stomach
13	chr1:154787000-154794800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:154787000-154795600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:154787000-154800400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:154787000-154805400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:154787200-154794600	Weak transcription	Brain Germinal Matrix	brain
18	chr1:154787200-154795200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:154787400-154790400	Weak transcription	Fetal Brain Female	brain
20	chr1:154787400-154790800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:154787400-154791600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:154787400-154795000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:154788800-154790000	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr1:154789200-154790400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:154789200-154792400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:154789400-154790400	Weak transcription	Fetal Stomach	stomach
27	chr1:154789400-154791600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:154789400-154792200	Strong transcription	GM12878-XiMat	blood
29	chr1:154789600-154791000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr1:154789600-154792200	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:154789600-154794800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:154789800-154790600	Strong transcription	Fetal Muscle Leg	muscle

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