Variant report

Variant	rs10164547
Chromosome Location	chr2:38760294-38760295
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	chr2:38759515..38762169-chr2:38765133..38766792,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12622497	0.82[MEX][hapmap]
rs13008970	0.85[EUR][1000 genomes]
rs13030122	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34092964	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34171322	0.84[EUR][1000 genomes]
rs34655983	0.85[EUR][1000 genomes]
rs35704960	0.85[EUR][1000 genomes]
rs35789272	0.91[EUR][1000 genomes]
rs35803605	0.90[EUR][1000 genomes]
rs56311849	0.94[ASN][1000 genomes]
rs7566216	0.84[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10164547	QPCT	cis	parietal	SCAN
rs10164547	CRIM1	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38751200-38762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:38755600-38760400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:38755600-38762800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:38755600-38763000	Weak transcription	Esophagus	oesophagus
5	chr2:38755600-38763000	Weak transcription	Pancreas	Pancrea
6	chr2:38756000-38760400	Weak transcription	Adipose Nuclei	Adipose
7	chr2:38756000-38760400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:38756000-38760800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:38756000-38761400	Weak transcription	Brain Anterior Caudate	brain
10	chr2:38756000-38762800	Weak transcription	Right Atrium	heart
11	chr2:38756800-38762800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:38759600-38763000	Enhancers	Primary B cells from peripheral blood	blood
13	chr2:38759600-38763000	Weak transcription	Brain Substantia Nigra	brain
14	chr2:38759800-38760400	Active TSS	Stomach Smooth Muscle	stomach
15	chr2:38759800-38761600	Enhancers	Primary B cells from cord blood	blood
16	chr2:38759800-38763000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:38760000-38760600	Enhancers	GM12878-XiMat	blood
18	chr2:38760000-38760800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:38760000-38761000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr2:38760000-38761000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:38760000-38761000	Flanking Bivalent TSS/Enh	HepG2	liver
22	chr2:38760000-38761000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr2:38760200-38760400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:38760200-38760600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:38760200-38760600	Enhancers	Aorta	Aorta
26	chr2:38760200-38760600	Enhancers	Rectal Smooth Muscle	rectum
27	chr2:38760200-38760600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:38760200-38760800	Enhancers	Colon Smooth Muscle	Colon

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