Variant report

Variant	rs1490453
Chromosome Location	chr4:149321346-149321347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:149318788..149321566-chr4:149363942..149366140,2	K562	blood:

Variant related genes	Relation type
ENSG00000151623	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11937655	0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512335	0.94[CEU][hapmap];0.93[GIH][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs16998733	0.81[CEU][hapmap]
rs17024681	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17484783	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17484839	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17484873	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17485033	0.81[CEU][hapmap]
rs17582031	0.81[CEU][hapmap]
rs2048546	0.81[CEU][hapmap]
rs56721167	0.94[ASN][1000 genomes]
rs59941204	0.94[ASN][1000 genomes]
rs61756947	0.94[ASN][1000 genomes]
rs6834935	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6840422	0.81[CEU][hapmap]
rs72729990	0.94[ASN][1000 genomes]
rs72729992	0.94[ASN][1000 genomes]
rs72953910	0.94[ASN][1000 genomes]
rs7688969	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7698307	0.81[CEU][hapmap]
rs879206	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs995567	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016966	chr4:149209467-149341037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv530433	chr4:149277637-149669181	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Biochemical measures	19260141	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1490453	SLC10A7	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149297800-149350000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:149299000-149329000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr4:149307600-149336600	Weak transcription	Aorta	Aorta
4	chr4:149312800-149338800	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:149313200-149326400	Weak transcription	Fetal Intestine Small	intestine
6	chr4:149315800-149326400	Weak transcription	Right Ventricle	heart
7	chr4:149317800-149321400	Enhancers	Colon Smooth Muscle	Colon
8	chr4:149318600-149326400	Weak transcription	Right Atrium	heart
9	chr4:149318600-149327400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:149318800-149346600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:149319000-149339000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr4:149319200-149326400	Weak transcription	Left Ventricle	heart
13	chr4:149319200-149326400	Weak transcription	Psoas Muscle	Psoas
14	chr4:149319200-149327200	Weak transcription	Fetal Stomach	stomach
15	chr4:149319200-149335000	Weak transcription	Esophagus	oesophagus
16	chr4:149319200-149339200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:149319400-149326400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr4:149319400-149334600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr4:149320200-149321600	Enhancers	Rectal Smooth Muscle	rectum
20	chr4:149320400-149326200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:149320400-149351800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:149321000-149326200	Weak transcription	Stomach Mucosa	stomach
23	chr4:149321200-149321400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:149321200-149321400	Enhancers	Fetal Kidney	kidney
25	chr4:149321200-149326400	Weak transcription	Fetal Heart	heart

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