Variant report

Variant	rs58547230
Chromosome Location	chr6:143853550-143853551
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	GATA3	chr6:143853225-143853875	SK-N-SH	brain:	n/a	n/a
2	PBX3	chr6:143853314-143853769	SK-N-SH	brain:	n/a	n/a
3	EP300	chr6:143853352-143853703	SK-N-SH_RA	brain:	n/a	n/a
4	PBX3	chr6:143853272-143853805	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr6:143853197-143857318	K562	blood:	n/a	n/a
6	TCF12	chr6:143853251-143853813	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr6:143853212-143853896	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:143831074..143833862-chr6:143851560..143853874,2	K562	blood:

Variant related genes	Relation type
PHACTR2	TF binding region
ENSG00000001036	Chromatin interaction

rs_ID	r²[population]
rs6926882	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582348	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582351	0.90[AMR][1000 genomes]
rs73582354	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9496723	1.00[EUR][1000 genomes]

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143834600-143855800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr6:143850000-143854400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr6:143850000-143854400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr6:143850400-143855400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr6:143850400-143857200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:143850400-143857400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:143850600-143855600	Weak transcription	GM12878-XiMat	blood
8	chr6:143850600-143855800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr6:143850600-143857200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:143850600-143857200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr6:143850600-143857200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr6:143850600-143857200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr6:143850600-143857200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:143851600-143857000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:143852600-143853600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:143852600-143854000	Enhancers	Fetal Intestine Small	intestine
17	chr6:143852600-143856400	Enhancers	Fetal Intestine Large	intestine
18	chr6:143852800-143853600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:143852800-143853600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr6:143852800-143853800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:143852800-143854600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr6:143852800-143857400	Weak transcription	Esophagus	oesophagus
23	chr6:143853000-143856800	Enhancers	Stomach Mucosa	stomach
24	chr6:143853200-143853600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:143853400-143854000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:143853400-143857200	Weak transcription	Primary T cells from cord blood	blood
27	chr6:143853400-143857400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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