Variant report

Variant	rs5749430
Chromosome Location	chr22:32806331-32806332
allele	A/G
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	POLR2A	chr22:32806138-32806964	GM12878	blood:	n/a	n/a
2	SPI1	chr22:32806110-32806462	HL-60	blood:	n/a	chr22:32806191-32806200 chr22:32806189-32806202

No.	Distal block	Cell Line	Cell type
1	chr22:32802183..32805062-chr22:32805761..32809013,3	MCF-7	breast:
2	chr22:32803479..32806391-chr22:32807402..32809274,3	MCF-7	breast:
3	chr22:32801191..32803610-chr22:32806296..32808272,2	K562	blood:

Variant related genes	Relation type
RTCB	TF binding region
ENSG00000100220	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16982521	1.00[YRI][hapmap]
rs1985543	1.00[YRI][hapmap]
rs2049948	0.95[CHB][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2076043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754073	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6518774	1.00[YRI][hapmap]
rs7287452	0.80[MEX][hapmap]
rs8140343	0.91[YRI][hapmap]
rs926308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1066118	chr22:32779078-32815334	Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5749430	CCDC157	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32780800-32806400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:32780800-32806400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:32781200-32806600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:32781400-32806400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr22:32781400-32806600	Strong transcription	Placenta	Placenta
6	chr22:32782800-32807200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:32783200-32806600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr22:32794200-32807400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr22:32798000-32806800	Weak transcription	Psoas Muscle	Psoas
10	chr22:32802000-32806800	Genic enhancers	Primary B cells from cord blood	blood
11	chr22:32804000-32806400	Weak transcription	Colonic Mucosa	Colon
12	chr22:32804200-32806400	Weak transcription	Gastric	stomach
13	chr22:32804200-32806600	Weak transcription	NHLF	lung
14	chr22:32804200-32806800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr22:32804200-32806800	Weak transcription	Esophagus	oesophagus
16	chr22:32804200-32807000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:32804200-32807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:32804400-32806400	Weak transcription	Fetal Stomach	stomach
19	chr22:32804600-32807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr22:32804800-32806400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr22:32804800-32806600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr22:32804800-32807000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr22:32804800-32807000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr22:32805000-32806400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr22:32805000-32806400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:32805000-32806400	Weak transcription	Left Ventricle	heart
27	chr22:32805000-32806400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr22:32805000-32806400	Weak transcription	A549	lung
29	chr22:32805000-32806400	Weak transcription	HSMMtube	muscle
30	chr22:32805000-32806600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr22:32805000-32806600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr22:32805000-32806600	Weak transcription	Brain Germinal Matrix	brain
33	chr22:32805000-32806600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr22:32805000-32806800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr22:32805000-32806800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr22:32805000-32806800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr22:32805000-32806800	Weak transcription	Aorta	Aorta
38	chr22:32805000-32806800	Weak transcription	Fetal Intestine Large	intestine
39	chr22:32805000-32806800	Weak transcription	Lung	lung
40	chr22:32805000-32806800	Weak transcription	HSMM	muscle
41	chr22:32805000-32806800	Weak transcription	NH-A	brain
42	chr22:32805000-32807000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr22:32805200-32806400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr22:32805200-32806600	Enhancers	Liver	Liver
45	chr22:32805400-32806400	Enhancers	Brain Anterior Caudate	brain
46	chr22:32805400-32806600	Enhancers	Brain Hippocampus Middle	brain
47	chr22:32805600-32806400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr22:32805600-32806400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr22:32805600-32806400	Enhancers	Adipose Nuclei	Adipose
50	chr22:32805600-32806600	Genic enhancers	Fetal Brain Female	brain

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