Variant report

Variant	rs73328343
Chromosome Location	chr8:125053016-125053017
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	USF1	chr8:125052777-125053155	H1-hESC	embryonic stem cell:	n/a	chr8:125052959-125052970
2	MAX	chr8:125052904-125053047	K562	blood:	n/a	n/a
3	USF1	chr8:125052822-125053056	SK-N-SH_RA	brain:	n/a	chr8:125052959-125052970
4	USF2	chr8:125052876-125053075	K562	blood:	n/a	chr8:125052960-125052971
5	EP300	chr8:125051759-125055472	SK-N-SH	brain:	n/a	chr8:125054259-125054267 chr8:125054847-125054861
6	ATF3	chr8:125052851-125053019	K562	blood:	n/a	n/a
7	MXI1	chr8:125052934-125054972	SK-N-SH	brain:	n/a	n/a
8	USF2	chr8:125052853-125053053	GM12878	blood:	n/a	chr8:125052960-125052971
9	MAX	chr8:125052810-125053110	K562	blood:	n/a	n/a
10	NFIC	chr8:125051996-125053339	ECC-1	luminal epithelium:	n/a	n/a
11	USF1	chr8:125052669-125053176	ECC-1	luminal epithelium:	n/a	chr8:125052959-125052970
12	ESR1	chr8:125052884-125053915	ECC-1	luminal epithelium:	n/a	n/a
13	TCF12	chr8:125052122-125054083	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr8:125052816-125053104	NB4	blood:	n/a	n/a
15	SPI1	chr8:125052788-125053266	HL-60	blood:	n/a	chr8:125053202-125053215
16	ESR1	chr8:125052966-125053209	ECC-1	luminal epithelium:	n/a	n/a
17	BHLHE40	chr8:125052818-125053099	K562	blood:	n/a	n/a
18	USF1	chr8:125052703-125053092	K562	blood:	n/a	chr8:125052959-125052970
19	SPI1	chr8:125052875-125053157	GM12891	blood:	n/a	n/a
20	USF1	chr8:125052683-125053199	H1-hESC	embryonic stem cell:	n/a	chr8:125052959-125052970
21	USF1	chr8:125052657-125053148	K562	blood:	n/a	chr8:125052959-125052970
22	ESR1	chr8:125052924-125053202	ECC-1	luminal epithelium:	n/a	n/a
23	SPI1	chr8:125052864-125053135	K562	blood:	n/a	n/a
24	USF1	chr8:125052872-125053058	GM12878	blood:	n/a	chr8:125052959-125052970
25	USF1	chr8:125052714-125053188	ECC-1	luminal epithelium:	n/a	chr8:125052959-125052970
26	USF1	chr8:125052850-125053027	HepG2	liver:	n/a	chr8:125052959-125052970
27	USF2	chr8:125052792-125053100	H1-hESC	embryonic stem cell:	n/a	chr8:125052960-125052971
28	NFIC	chr8:125052057-125054163	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:125052912..125056665-chr8:125383684..125385533,3	MCF-7	breast:
2	chr8:125052149..125053721-chr8:125383460..125385142,2	MCF-7	breast:
3	chr8:125051633..125053177-chr8:125461476..125463177,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANXA13-2	chr8:125052867-125053023	ENSG00000181171.5

Variant related genes	Relation type
ENSG00000254249	TF binding region
ENSG00000183665	Chromatin interaction
ENSG00000164983	Chromatin interaction

rs_ID	r²[population]
rs10453080	1.00[ASN][1000 genomes]
rs59462187	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59661530	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73328340	0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73328348	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73328367	0.88[ASN][1000 genomes]
rs73328371	0.88[ASN][1000 genomes]

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125047400-125053400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr8:125050600-125054800	Enhancers	Fetal Intestine Small	intestine
3	chr8:125051200-125054800	Enhancers	Fetal Intestine Large	intestine
4	chr8:125051400-125054000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:125051400-125054200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:125051400-125054200	Enhancers	A549	lung
7	chr8:125051400-125054400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:125051400-125054400	Enhancers	Fetal Muscle Leg	muscle
9	chr8:125051600-125054400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:125051800-125053400	Enhancers	Fetal Kidney	kidney
11	chr8:125052000-125053200	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr8:125052000-125053600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr8:125052000-125054000	Enhancers	Rectal Smooth Muscle	rectum
14	chr8:125052000-125054200	Enhancers	Colon Smooth Muscle	Colon
15	chr8:125052000-125054200	Enhancers	Fetal Stomach	stomach
16	chr8:125052000-125054400	Enhancers	Primary hematopoietic stem cells	blood
17	chr8:125052000-125054400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr8:125052200-125054000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr8:125052200-125054000	Enhancers	Stomach Smooth Muscle	stomach
20	chr8:125052200-125054400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:125052200-125054600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:125052400-125053200	Weak transcription	Stomach Mucosa	stomach
23	chr8:125052400-125053800	Enhancers	Primary B cells from peripheral blood	blood
24	chr8:125052400-125054000	Enhancers	K562	blood
25	chr8:125052600-125053200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr8:125052600-125053200	Enhancers	Primary B cells from cord blood	blood
27	chr8:125052600-125053400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:125052600-125053800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:125052600-125054000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:125052600-125083600	Weak transcription	Gastric	stomach
31	chr8:125053000-125053600	Flanking Active TSS	Fetal Heart	heart
32	chr8:125053000-125053800	Enhancers	Duodenum Mucosa	Duodenum
33	chr8:125053000-125053800	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr8:125053000-125054000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr8:125053000-125060400	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links