Variant report

Variant	rs280917
Chromosome Location	chr13:30161452-30161453
allele	A/C
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	chr13:30160868-30162092	A549	lung:	n/a	n/a
2	POLR2A	chr13:30161406-30162126	GM12891	blood:	n/a	n/a
3	POLR2A	chr13:30160962-30162546	K562	blood:	n/a	n/a
4	POLR2A	chr13:30161212-30162061	GM12892	blood:	n/a	n/a
5	POLR2A	chr13:30161249-30161573	GM12891	blood:	n/a	n/a
6	POLR2A	chr13:30161051-30162096	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr13:30161209-30161594	GM12878	blood:	n/a	n/a
8	POLR2A	chr13:30161279-30162122	GM12892	blood:	n/a	n/a
9	POLR2A	chr13:30161205-30162261	GM12878	blood:	n/a	n/a
10	POLR2A	chr13:30160442-30162544	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30126094..30127682-chr13:30160999..30163139,2	MCF-7	breast:

Variant related genes	Relation type
SLC7A1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1275359	1.00[AMR][1000 genomes]
rs166827	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs280927	1.00[AMR][1000 genomes]
rs280929	1.00[AMR][1000 genomes]
rs280935	1.00[AMR][1000 genomes]
rs280937	1.00[AMR][1000 genomes]
rs280950	1.00[AMR][1000 genomes]
rs280954	1.00[AMR][1000 genomes]
rs7986532	1.00[AMR][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:105 , 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	chr13:30128600-30161800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr13:30128800-30168200	Weak transcription	Primary T cells from cord blood	blood
4	chr13:30147200-30163200	Weak transcription	Fetal Intestine Small	intestine
5	chr13:30147800-30163600	Weak transcription	Thymus	Thymus
6	chr13:30148400-30167400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr13:30152400-30163200	Weak transcription	Spleen	Spleen
8	chr13:30152600-30168200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:30153600-30163200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr13:30154600-30163400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:30156000-30163600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr13:30156400-30164000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:30156400-30168400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr13:30156600-30161800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr13:30156600-30163000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:30156600-30163400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr13:30156600-30164000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr13:30156800-30161600	Weak transcription	Colon Smooth Muscle	Colon
19	chr13:30156800-30163400	Weak transcription	Fetal Muscle Leg	muscle
20	chr13:30156800-30168200	Weak transcription	Fetal Brain Female	brain
21	chr13:30156800-30168400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr13:30157000-30164000	Weak transcription	Brain Hippocampus Middle	brain
23	chr13:30157200-30161600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr13:30157200-30163000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr13:30157200-30168400	Weak transcription	Brain Germinal Matrix	brain
26	chr13:30157400-30163600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr13:30157600-30163200	Weak transcription	Right Ventricle	heart
28	chr13:30157600-30163400	Weak transcription	HSMMtube	muscle
29	chr13:30157600-30163800	Weak transcription	Right Atrium	heart
30	chr13:30157600-30166000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr13:30157600-30168200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr13:30157600-30168200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr13:30157800-30161600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr13:30157800-30161600	Weak transcription	Esophagus	oesophagus
35	chr13:30157800-30161800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr13:30157800-30161800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr13:30157800-30162600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr13:30157800-30163000	Weak transcription	Left Ventricle	heart
39	chr13:30157800-30163400	Weak transcription	NHLF	lung
40	chr13:30157800-30163600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr13:30157800-30166400	Weak transcription	Lung	lung
42	chr13:30157800-30168200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr13:30157800-30168400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr13:30157800-30168400	Weak transcription	Small Intestine	intestine
45	chr13:30157800-30168600	Weak transcription	Ovary	ovary
46	chr13:30158000-30161800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr13:30158000-30163200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:30158000-30163600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr13:30158000-30168600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr13:30158200-30161600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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