Variant report

Variant	rs9551700
Chromosome Location	chr13:30163168-30163169
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	FOXM1	chr13:30163096-30163817	ECC-1	luminal epithelium:	n/a	n/a
2	REST	chr13:30163117-30163312	H1-hESC	embryonic stem cell:	n/a	chr13:30163241-30163254 chr13:30163236-30163245 chr13:30163219-30163232
3	TCF12	chr13:30163088-30164317	ECC-1	luminal epithelium:	n/a	chr13:30163136-30163146 chr13:30163646-30163656
4	POLR2A	chr13:30163081-30164741	HepG2	liver:	n/a	n/a
5	NFIC	chr13:30163146-30164030	ECC-1	luminal epithelium:	n/a	n/a
6	FOXM1	chr13:30163128-30164080	ECC-1	luminal epithelium:	n/a	n/a
7	TCF12	chr13:30163119-30164269	ECC-1	luminal epithelium:	n/a	chr13:30163136-30163146 chr13:30163646-30163656
8	POLR2A	chr13:30163104-30164866	Hela-S3	cervix:	n/a	n/a
9	REST	chr13:30163037-30163409	SK-N-SH	brain:	n/a	chr13:30163241-30163254 chr13:30163236-30163245 chr13:30163219-30163232
10	EP300	chr13:30163012-30164336	ECC-1	luminal epithelium:	n/a	n/a
11	REST	chr13:30163120-30163303	PFSK-1	brain:	n/a	chr13:30163241-30163254 chr13:30163236-30163245 chr13:30163219-30163232
12	POLR2A	chr13:30163062-30163273	K562	blood:	n/a	n/a
13	ZBTB7A	chr13:30163124-30164013	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr13:30162982-30164138	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr13:30163135-30163288	A549	lung:	n/a	n/a

Variant related genes	Relation type
SLC7A1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs166828	0.86[CHB][hapmap]
rs1877463	0.86[CHB][hapmap]
rs2137395	0.85[ASN][1000 genomes]
rs280922	0.86[CHB][hapmap]
rs280923	0.85[CHB][hapmap]
rs280924	0.85[CHB][hapmap]
rs280930	0.86[CHB][hapmap]
rs280933	0.86[CHB][hapmap]
rs280934	0.86[CHB][hapmap]
rs280936	0.86[CHB][hapmap]
rs476506	0.86[CHB][hapmap];0.92[CHD][hapmap];0.80[ASN][1000 genomes]
rs579451	0.86[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs617892	0.86[CHB][hapmap]
rs7338758	0.81[CHD][hapmap]
rs7991883	0.81[ASN][1000 genomes]
rs7997827	0.86[CHB][hapmap]
rs9506206	0.85[ASN][1000 genomes]
rs9508499	0.81[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs9550483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9551699	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9551701	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv979	chr13:30122254-30167821	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30128000-30163600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr13:30128800-30168200	Weak transcription	Primary T cells from cord blood	blood
3	chr13:30147200-30163200	Weak transcription	Fetal Intestine Small	intestine
4	chr13:30147800-30163600	Weak transcription	Thymus	Thymus
5	chr13:30148400-30167400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr13:30152400-30163200	Weak transcription	Spleen	Spleen
7	chr13:30152600-30168200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:30153600-30163200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr13:30154600-30163400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:30156000-30163600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr13:30156400-30164000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:30156400-30168400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr13:30156600-30163400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr13:30156600-30164000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr13:30156800-30163400	Weak transcription	Fetal Muscle Leg	muscle
16	chr13:30156800-30168200	Weak transcription	Fetal Brain Female	brain
17	chr13:30156800-30168400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr13:30157000-30164000	Weak transcription	Brain Hippocampus Middle	brain
19	chr13:30157200-30168400	Weak transcription	Brain Germinal Matrix	brain
20	chr13:30157400-30163600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr13:30157600-30163200	Weak transcription	Right Ventricle	heart
22	chr13:30157600-30163400	Weak transcription	HSMMtube	muscle
23	chr13:30157600-30163800	Weak transcription	Right Atrium	heart
24	chr13:30157600-30166000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr13:30157600-30168200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr13:30157600-30168200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr13:30157800-30163400	Weak transcription	NHLF	lung
28	chr13:30157800-30163600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr13:30157800-30166400	Weak transcription	Lung	lung
30	chr13:30157800-30168200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr13:30157800-30168400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr13:30157800-30168400	Weak transcription	Small Intestine	intestine
33	chr13:30157800-30168600	Weak transcription	Ovary	ovary
34	chr13:30158000-30163200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr13:30158000-30163600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr13:30158000-30168600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr13:30158200-30166800	Weak transcription	Fetal Thymus	thymus
38	chr13:30158200-30168400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr13:30158800-30165600	Weak transcription	A549	lung
40	chr13:30159400-30165800	Weak transcription	K562	blood
41	chr13:30159400-30168200	Weak transcription	Brain Angular Gyrus	brain
42	chr13:30159600-30164000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr13:30159600-30164200	Weak transcription	Fetal Brain Male	brain
44	chr13:30159800-30165600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr13:30160000-30164000	Weak transcription	Hela-S3	cervix
46	chr13:30160000-30167400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr13:30160000-30168400	Weak transcription	Psoas Muscle	Psoas
48	chr13:30160200-30164400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr13:30160200-30167000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr13:30160800-30163400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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