Variant report

Variant	rs35925712
Chromosome Location	chr22:29947905-29947906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr22:29947756-29948016	GM12878	blood:	n/a	n/a
2	PAX5	chr22:29947756-29948087	GM12892	blood:	n/a	n/a
3	PAX5	chr22:29947709-29948007	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29938209..29940408-chr22:29946980..29949798,2	K562	blood:
2	chr22:29947295..29951735-chr22:29976015..29980297,4	K562	blood:

Variant related genes	Relation type
THOC5	TF binding region
ENSG00000100296	Chromatin interaction
ENSG00000184117	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs55684603	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv834172	chr22:29899036-30057948	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers 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	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35925712	MTP18,SEC14L2	cis	hippocampus	BrainEAC

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29900400-29949200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:29902600-29949000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr22:29913600-29949200	Weak transcription	Right Atrium	heart
4	chr22:29918000-29948000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:29925000-29949200	Weak transcription	Small Intestine	intestine
6	chr22:29925800-29948800	Weak transcription	Stomach Mucosa	stomach
7	chr22:29930200-29948800	Weak transcription	Fetal Heart	heart
8	chr22:29933000-29949000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr22:29933200-29949000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr22:29935800-29948600	Weak transcription	Fetal Brain Male	brain
11	chr22:29939600-29949200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr22:29940800-29949000	Weak transcription	NHDF-Ad	bronchial
13	chr22:29940800-29949200	Weak transcription	Psoas Muscle	Psoas
14	chr22:29943000-29948000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr22:29944800-29949200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr22:29944800-29949200	Weak transcription	Colon Smooth Muscle	Colon
17	chr22:29945000-29948800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr22:29945000-29948800	Weak transcription	NHEK	skin
19	chr22:29945000-29949000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr22:29945000-29949200	Weak transcription	Ovary	ovary
21	chr22:29945000-29949200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr22:29945200-29948600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:29945200-29948600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr22:29945200-29948600	Weak transcription	Right Ventricle	heart
25	chr22:29945200-29948800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr22:29945200-29948800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr22:29945200-29948800	Weak transcription	Adipose Nuclei	Adipose
28	chr22:29945200-29948800	Weak transcription	Esophagus	oesophagus
29	chr22:29945200-29948800	Weak transcription	Placenta	Placenta
30	chr22:29945200-29948800	Weak transcription	HMEC	breast
31	chr22:29945200-29949000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr22:29945200-29949000	Weak transcription	Colonic Mucosa	Colon
33	chr22:29945200-29949200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:29945200-29949200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr22:29945200-29949200	Weak transcription	Brain Substantia Nigra	brain
36	chr22:29945200-29949200	Weak transcription	Pancreas	Pancrea
37	chr22:29945400-29948600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr22:29945400-29948600	Weak transcription	Liver	Liver
39	chr22:29945400-29948800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr22:29945400-29948800	Weak transcription	Brain Anterior Caudate	brain
41	chr22:29945400-29948800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr22:29945400-29949000	Weak transcription	Fetal Intestine Large	intestine
43	chr22:29945400-29949200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr22:29945400-29949200	Weak transcription	Left Ventricle	heart
45	chr22:29945400-29949200	Weak transcription	Lung	lung
46	chr22:29945600-29948600	Weak transcription	Fetal Brain Female	brain
47	chr22:29945600-29948800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr22:29945600-29948800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr22:29945600-29948800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr22:29945600-29948800	Weak transcription	Gastric	stomach

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