Variant report

Variant	rs9947155
Chromosome Location	chr18:45691181-45691182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:45690022..45691646-chr18:45700524..45702703,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4076363	0.82[CHD][hapmap];0.81[GIH][hapmap];0.83[TSI][hapmap]
rs7243021	0.86[CHB][hapmap];0.86[CHD][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap]
rs7243437	0.86[CHB][hapmap];0.86[CHD][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap]
rs8091725	0.86[CHB][hapmap];0.86[CHD][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap]
rs8092444	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8097448	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8098626	0.82[CHD][hapmap];0.83[GIH][hapmap];0.80[JPT][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9947155	CXXC1	cis	parietal	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45688400-45699200	Enhancers	Spleen	Spleen
2	chr18:45688600-45691400	Enhancers	HSMMtube	muscle
3	chr18:45688600-45692400	Enhancers	Fetal Kidney	kidney
4	chr18:45688600-45693200	Weak transcription	Psoas Muscle	Psoas
5	chr18:45688800-45691200	Weak transcription	Primary B cells from cord blood	blood
6	chr18:45688800-45691200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr18:45688800-45691400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr18:45688800-45691600	Weak transcription	Esophagus	oesophagus
9	chr18:45688800-45691600	Weak transcription	Left Ventricle	heart
10	chr18:45688800-45691600	Weak transcription	Lung	lung
11	chr18:45688800-45691600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr18:45688800-45692000	Enhancers	Fetal Stomach	stomach
13	chr18:45688800-45692200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr18:45688800-45692200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr18:45688800-45692800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr18:45688800-45692800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr18:45688800-45693000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr18:45688800-45693200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr18:45688800-45693200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr18:45688800-45693200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr18:45688800-45693400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr18:45688800-45694800	Enhancers	Fetal Muscle Leg	muscle
23	chr18:45688800-45695600	Enhancers	Placenta	Placenta
24	chr18:45688800-45696600	Enhancers	Fetal Intestine Small	intestine
25	chr18:45688800-45696800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr18:45688800-45697000	Enhancers	Fetal Intestine Large	intestine
27	chr18:45688800-45697000	Enhancers	Ovary	ovary
28	chr18:45689000-45691200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr18:45689000-45691200	Weak transcription	Adipose Nuclei	Adipose
30	chr18:45689000-45691400	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr18:45689000-45691600	Weak transcription	Liver	Liver
32	chr18:45689000-45692400	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr18:45689000-45692600	Enhancers	Fetal Lung	lung
34	chr18:45689000-45693000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr18:45689000-45693200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr18:45689000-45693600	Enhancers	Stomach Mucosa	stomach
37	chr18:45689000-45693800	Weak transcription	Brain Hippocampus Middle	brain
38	chr18:45689200-45691400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr18:45689200-45691600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr18:45689200-45695800	Enhancers	Duodenum Mucosa	Duodenum
41	chr18:45689400-45691600	Weak transcription	Fetal Heart	heart
42	chr18:45689400-45691600	Weak transcription	Pancreas	Pancrea
43	chr18:45689400-45693200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr18:45689600-45691600	Weak transcription	Colonic Mucosa	Colon
45	chr18:45689800-45693200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr18:45689800-45693200	Weak transcription	Brain Substantia Nigra	brain
47	chr18:45690000-45691600	Enhancers	HepG2	liver
48	chr18:45690000-45691800	Weak transcription	Gastric	stomach
49	chr18:45690200-45692800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr18:45690200-45695800	Enhancers	Hela-S3	cervix

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