Variant report

Variant	rs5749148
Chromosome Location	chr22:31030213-31030214
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	RAD21	chr22:31030159-31033009	SK-N-SH	brain:	n/a	chr22:31030567-31030586 chr22:31031143-31031156 chr22:31030572-31030584 chr22:31032159-31032171 chr22:31031145-31031157 chr22:31031995-31032005 chr22:31031446-31031456 chr22:31031511-31031524 chr22:31030571-31030580 chr22:31031145-31031155 chr22:31030568-31030582
2	SMC3	chr22:31030099-31032972	SK-N-SH	brain:	n/a	chr22:31032378-31032385 chr22:31031145-31031155 chr22:31031446-31031460 chr22:31031446-31031456 chr22:31030568-31030575 chr22:31030568-31030582 chr22:31032408-31032418
3	MAZ	chr22:31030211-31032738	IMR90	lung:	n/a	chr22:31031998-31032008 chr22:31030749-31030758
4	RCOR1	chr22:31030177-31032959	IMR90	lung:	n/a	n/a
5	CTCF	chr22:31030137-31032129	SK-N-SH	brain:	n/a	chr22:31030569-31030582 chr22:31031144-31031154 chr22:31030566-31030584 chr22:31031444-31031462 chr22:31030568-31030589 chr22:31031139-31031157 chr22:31030569-31030582 chr22:31031446-31031459 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31031450-31031459 chr22:31030569-31030578
6	CTCF	chr22:31030120-31030270	GM12870	blood:	n/a	n/a
7	RAD21	chr22:31030209-31031055	HCT-116	colon:	n/a	chr22:31030567-31030586 chr22:31030572-31030584 chr22:31030571-31030580 chr22:31030568-31030582
8	RAD21	chr22:31030122-31031722	HCT-116	colon:	n/a	chr22:31030567-31030586 chr22:31031143-31031156 chr22:31030572-31030584 chr22:31031145-31031157 chr22:31031446-31031456 chr22:31031511-31031524 chr22:31030571-31030580 chr22:31031145-31031155 chr22:31030568-31030582
9	CTCF	chr22:31030153-31031612	HCT-116	colon:	n/a	chr22:31030569-31030582 chr22:31031144-31031154 chr22:31030566-31030584 chr22:31031444-31031462 chr22:31030568-31030589 chr22:31031139-31031157 chr22:31030569-31030582 chr22:31031446-31031459 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31031450-31031459 chr22:31030569-31030578
10	CHD1	chr22:31030212-31033049	IMR90	lung:	n/a	n/a
11	CTCF	chr22:31030155-31030986	A549	lung:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
12	CTCF	chr22:31030200-31030350	WI-38	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31030117..31031164-chr22:31286279..31286856,3	MCF-7	breast:

Variant related genes	Relation type
SLC35E4	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10418	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11703570	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13053941	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13054505	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13054912	0.89[ASN][1000 genomes]
rs13055009	0.83[ASN][1000 genomes]
rs13056378	0.81[ASN][1000 genomes]
rs13057127	0.92[ASN][1000 genomes]
rs1544468	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1981590	0.81[EUR][1000 genomes]
rs2003503	0.99[ASN][1000 genomes]
rs2078973	0.91[ASN][1000 genomes]
rs2301955	0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2301957	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2301958	0.93[CHB][hapmap];0.87[JPT][hapmap]
rs3179442	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs4340628	0.99[ASN][1000 genomes]
rs4353747	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4820023	0.83[EUR][1000 genomes]
rs4820888	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4820890	0.83[ASN][1000 genomes]
rs56132790	0.92[ASN][1000 genomes]
rs5749131	0.81[CHB][hapmap]
rs5749134	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5749135	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5749137	0.83[ASN][1000 genomes]
rs5749142	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749143	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749145	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749149	0.81[EUR][1000 genomes]
rs5753246	0.82[ASN][1000 genomes]
rs5753249	0.83[ASN][1000 genomes]
rs5753257	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753258	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753260	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753267	0.81[ASN][1000 genomes]
rs5994328	0.81[EUR][1000 genomes]
rs5997703	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5997709	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5997710	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5997715	0.80[EUR][1000 genomes]
rs5997726	0.92[ASN][1000 genomes]
rs5997727	0.93[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs7286054	0.81[ASN][1000 genomes]
rs7286680	0.84[ASN][1000 genomes]
rs7289553	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs731990	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs731991	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs740233	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs740235	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs757030	0.88[ASN][1000 genomes]
rs766526	0.86[ASN][1000 genomes]
rs8138932	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8139950	0.82[EUR][1000 genomes]
rs8630	0.93[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs9621047	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv829172	chr22:31024057-31032291	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31003200-31031200	Weak transcription	Aorta	Aorta
2	chr22:31003800-31030600	Weak transcription	Thymus	Thymus
3	chr22:31006000-31030400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr22:31006000-31030600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:31006000-31030600	Weak transcription	Colonic Mucosa	Colon
6	chr22:31006200-31030600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr22:31006600-31030400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr22:31007000-31030600	Weak transcription	Fetal Brain Male	brain
9	chr22:31008000-31030400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr22:31011800-31030600	Weak transcription	Right Ventricle	heart
11	chr22:31012000-31030600	Weak transcription	Brain Angular Gyrus	brain
12	chr22:31013600-31030600	Weak transcription	Pancreas	Pancrea
13	chr22:31013800-31030600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr22:31014000-31030400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr22:31014000-31030800	Weak transcription	Gastric	stomach
16	chr22:31014000-31030800	Weak transcription	Ovary	ovary
17	chr22:31015800-31030600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:31015800-31030600	Weak transcription	Fetal Lung	lung
19	chr22:31017000-31030400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr22:31017000-31030600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr22:31017200-31030600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr22:31019200-31030600	Weak transcription	Colon Smooth Muscle	Colon
23	chr22:31019200-31030600	Weak transcription	Left Ventricle	heart
24	chr22:31019200-31030800	Weak transcription	Lung	lung
25	chr22:31023000-31030600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr22:31023000-31030600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr22:31023000-31030600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr22:31023000-31030600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr22:31023200-31030400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:31023200-31030400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr22:31023200-31030400	Weak transcription	Liver	Liver
32	chr22:31023200-31030600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr22:31023200-31030600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr22:31023200-31030600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr22:31023200-31030600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr22:31023200-31030600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr22:31023200-31030600	Weak transcription	Adipose Nuclei	Adipose
38	chr22:31023200-31030600	Weak transcription	Fetal Brain Female	brain
39	chr22:31024000-31030600	Weak transcription	Spleen	Spleen
40	chr22:31025000-31030600	Weak transcription	Brain Germinal Matrix	brain
41	chr22:31025200-31031200	Weak transcription	Right Atrium	heart
42	chr22:31026200-31030600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr22:31026400-31031000	Weak transcription	Fetal Heart	heart
44	chr22:31028200-31030400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr22:31030200-31030400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr22:31030200-31030400	Enhancers	Brain Anterior Caudate	brain
47	chr22:31030200-31030600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr22:31030200-31030600	Enhancers	Primary B cells from peripheral blood	blood
49	chr22:31030200-31030600	Enhancers	Primary T cells fromperipheralblood	blood
50	chr22:31030200-31030600	Enhancers	Primary T helper cells PMA-I stimulated	--

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