Variant report

Variant	rs1420152
Chromosome Location	chr7:33293985-33293986
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:41463874..41467729-chr7:33291332..33294337,4	K562	blood:
2	chr17:41380312..41383401-chr7:33291355..33294353,3	MCF-7	breast:
3	chr17:41380387..41382197-chr7:33292837..33294355,4	MCF-7	breast:
4	chr17:41462939..41465367-chr7:33292835..33294355,2	MCF-7	breast:
5	chr17:41398797..41401165-chr7:33291335..33294355,5	MCF-7	breast:
6	chr17:41380292..41383703-chr7:33291335..33294335,6	K562	blood:
7	chr17:41398400..41401723-chr7:33291352..33294335,3	K562	blood:
8	chr17:41380127..41383362-chr7:33291332..33294355,8	K562	blood:
9	chr17:41398400..41402313-chr7:33292833..33294335,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236383	Chromatin interaction
ENSG00000188825	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10225173	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10254116	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10262453	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10271927	0.83[EUR][1000 genomes]
rs12155002	0.85[EUR][1000 genomes]
rs12534242	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12536300	0.87[CEU][hapmap]
rs12537875	0.85[EUR][1000 genomes]
rs12538649	0.95[CEU][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12669011	0.81[ASN][1000 genomes]
rs1345306	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1420154	0.95[CEU][hapmap];0.93[LWK][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17396870	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1978333	0.84[EUR][1000 genomes]
rs28435377	0.82[EUR][1000 genomes]
rs28789535	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4720111	0.88[CHB][hapmap]
rs4720113	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4720114	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4723264	0.88[CHB][hapmap]
rs4723276	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6946608	0.95[CEU][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs6947352	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6979640	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs7785463	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7789007	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9768604	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830943	chr7:33167106-33352759	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv606610	chr7:33218763-33486316	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1016416	chr7:33241443-33559477	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv916660	chr7:33272493-33506384	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33283800-33316000	Weak transcription	Ovary	ovary
2	chr7:33287200-33296000	Weak transcription	Pancreas	Pancrea
3	chr7:33288800-33317600	Weak transcription	Gastric	stomach
4	chr7:33289400-33309000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:33289600-33310800	Weak transcription	Psoas Muscle	Psoas
6	chr7:33290000-33316200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr7:33290800-33295800	Weak transcription	Fetal Lung	lung
8	chr7:33290800-33309000	Weak transcription	Fetal Stomach	stomach
9	chr7:33290800-33316400	Weak transcription	Aorta	Aorta
10	chr7:33291200-33297600	Weak transcription	Osteobl	bone
11	chr7:33291200-33297800	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:33291200-33298000	Weak transcription	NHDF-Ad	bronchial
13	chr7:33291200-33316000	Weak transcription	Primary T cells from cord blood	blood
14	chr7:33291600-33305200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:33291800-33307600	Weak transcription	Left Ventricle	heart
16	chr7:33293400-33302200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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