Variant report

Variant	rs715297
Chromosome Location	chr22:31442308-31442309
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	chr22:31440735..31445105-chr22:31479162..31482553,6	K562	blood:
2	chr22:31439219..31443340-chr22:31479162..31482694,5	K562	blood:

Variant related genes	Relation type
ENSG00000183963	Chromatin interaction
ENSG00000273387	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs12157450	1.00[JPT][hapmap]
rs12168052	1.00[JPT][hapmap]
rs12330058	1.00[JPT][hapmap]
rs2006301	1.00[JPT][hapmap]
rs5994366	1.00[JPT][hapmap]
rs5994370	1.00[JPT][hapmap]
rs7284593	1.00[JPT][hapmap]
rs7285683	1.00[JPT][hapmap]
rs7291565	1.00[JPT][hapmap]
rs736901	1.00[JPT][hapmap]
rs9619167	1.00[JPT][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	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv966103	chr22:31410201-31452981	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv524366	chr22:31440703-31480069	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs715297	LIMK2	cis	cerebellum	SCAN
rs715297	PISD	cis	cerebellum	SCAN
rs715297	CRYBB1	cis	cerebellum	SCAN
rs715297	RHBDD3	cis	cerebellum	SCAN
rs715297	SEC14L4	cis	cerebellum	SCAN
rs715297	ASCC2	cis	cerebellum	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31433600-31442600	Weak transcription	HSMM	muscle
2	chr22:31433800-31446000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr22:31440000-31453200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr22:31440200-31442800	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr22:31440200-31443000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr22:31440200-31443200	Enhancers	Fetal Muscle Trunk	muscle
7	chr22:31440200-31443400	Enhancers	Fetal Muscle Leg	muscle
8	chr22:31440200-31443400	Enhancers	Right Ventricle	heart
9	chr22:31440200-31443400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr22:31440200-31443600	Enhancers	Ovary	ovary
11	chr22:31440200-31443800	Enhancers	Left Ventricle	heart
12	chr22:31440200-31447400	Enhancers	Adipose Nuclei	Adipose
13	chr22:31440400-31443000	Enhancers	Rectal Smooth Muscle	rectum
14	chr22:31440600-31442400	Weak transcription	A549	lung
15	chr22:31440600-31451000	Weak transcription	Osteobl	bone
16	chr22:31440800-31442600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr22:31440800-31442600	Weak transcription	NHLF	lung
18	chr22:31440800-31442800	Weak transcription	Fetal Intestine Small	intestine
19	chr22:31440800-31442800	Weak transcription	NHDF-Ad	bronchial
20	chr22:31440800-31443000	Enhancers	Stomach Smooth Muscle	stomach
21	chr22:31441400-31443000	Enhancers	Colon Smooth Muscle	Colon
22	chr22:31441400-31443200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr22:31441400-31443800	Enhancers	Spleen	Spleen
24	chr22:31441600-31442400	Enhancers	HUVEC	blood vessel
25	chr22:31441600-31455000	Enhancers	Fetal Stomach	stomach
26	chr22:31441800-31442600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr22:31441800-31442800	Weak transcription	Lung	lung
28	chr22:31441800-31443200	Enhancers	Brain Substantia Nigra	brain
29	chr22:31441800-31443400	Enhancers	Fetal Lung	lung
30	chr22:31442000-31442400	Enhancers	Fetal Intestine Large	intestine
31	chr22:31442000-31442600	Enhancers	Colonic Mucosa	Colon
32	chr22:31442000-31443000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr22:31442000-31443200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:31442000-31443200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr22:31442000-31443200	Enhancers	Fetal Kidney	kidney
36	chr22:31442000-31443600	Enhancers	Right Atrium	heart
37	chr22:31442000-31443600	Enhancers	K562	blood
38	chr22:31442200-31442600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr22:31442200-31442800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr22:31442200-31442800	Flanking Active TSS	HepG2	liver
41	chr22:31442200-31443000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr22:31442200-31443000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr22:31442200-31443000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr22:31442200-31443000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr22:31442200-31443000	Enhancers	Brain Anterior Caudate	brain
46	chr22:31442200-31443000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr22:31442200-31443000	Enhancers	NH-A	brain
48	chr22:31442200-31443200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr22:31442200-31443200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr22:31442200-31443200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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