Variant report

Variant	rs73154452
Chromosome Location	chr13:30161367-30161368
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	EP300	chr13:30160891-30161373	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr13:30160868-30162092	A549	lung:	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: 2 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73154451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	chr13:30126000-30161400	Weak transcription	Primary B cells from cord blood	blood
2	chr13:30128000-30163600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr13:30128600-30161800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr13:30128800-30168200	Weak transcription	Primary T cells from cord blood	blood
5	chr13:30147200-30163200	Weak transcription	Fetal Intestine Small	intestine
6	chr13:30147800-30163600	Weak transcription	Thymus	Thymus
7	chr13:30148400-30167400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr13:30152400-30163200	Weak transcription	Spleen	Spleen
9	chr13:30152600-30168200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:30153600-30163200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr13:30154600-30163400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:30155800-30161400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:30156000-30163600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr13:30156400-30164000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:30156400-30168400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr13:30156600-30161800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:30156600-30163000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:30156600-30163400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr13:30156600-30164000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr13:30156800-30161600	Weak transcription	Colon Smooth Muscle	Colon
21	chr13:30156800-30163400	Weak transcription	Fetal Muscle Leg	muscle
22	chr13:30156800-30168200	Weak transcription	Fetal Brain Female	brain
23	chr13:30156800-30168400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr13:30157000-30164000	Weak transcription	Brain Hippocampus Middle	brain
25	chr13:30157200-30161400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr13:30157200-30161600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr13:30157200-30163000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr13:30157200-30168400	Weak transcription	Brain Germinal Matrix	brain
29	chr13:30157400-30163600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr13:30157600-30163200	Weak transcription	Right Ventricle	heart
31	chr13:30157600-30163400	Weak transcription	HSMMtube	muscle
32	chr13:30157600-30163800	Weak transcription	Right Atrium	heart
33	chr13:30157600-30166000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr13:30157600-30168200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr13:30157600-30168200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr13:30157800-30161600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr13:30157800-30161600	Weak transcription	Esophagus	oesophagus
38	chr13:30157800-30161800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr13:30157800-30161800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr13:30157800-30162600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr13:30157800-30163000	Weak transcription	Left Ventricle	heart
42	chr13:30157800-30163400	Weak transcription	NHLF	lung
43	chr13:30157800-30163600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr13:30157800-30166400	Weak transcription	Lung	lung
45	chr13:30157800-30168200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr13:30157800-30168400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr13:30157800-30168400	Weak transcription	Small Intestine	intestine
48	chr13:30157800-30168600	Weak transcription	Ovary	ovary
49	chr13:30158000-30161400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr13:30158000-30161800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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