Variant report

Variant	rs72940432
Chromosome Location	chr3:100789260-100789261
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:100612213..100613093-chr3:100788871..100789436,4	MCF-7	breast:
2	chr3:100788830..100789638-chr3:101100403..101101282,3	MCF-7	breast:
3	chr3:100788825..100789763-chr3:100914706..100915595,6	MCF-7	breast:
4	chr3:100788987..100791271-chr3:100835784..100837518,2	K562	blood:
5	chr3:100788607..100789401-chr3:100914647..100915562,5	MCF-7	breast:
6	chr3:100609802..100610399-chr3:100788949..100789683,2	MCF-7	breast:
7	chr3:100788848..100789981-chr3:100914652..100915586,4	K562	blood:
8	chr3:100780235..100782485-chr3:100787488..100789969,2	K562	blood:

No data

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs61244178	1.00[AFR][1000 genomes]
rs72934219	1.00[AFR][1000 genomes]
rs72940419	1.00[AFR][1000 genomes]
rs72940421	1.00[AFR][1000 genomes]
rs72940422	1.00[AFR][1000 genomes]
rs72940424	1.00[AFR][1000 genomes]
rs72940427	1.00[AFR][1000 genomes]
rs72940428	1.00[AFR][1000 genomes]
rs72940458	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv877222	chr3:100715576-101038297	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv591176	chr3:100763611-100799644	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv591177	chr3:100767398-100799644	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3344837	chr3:100774311-100789597	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100786000-100791000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:100786000-100791000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:100787200-100789400	Enhancers	NHLF	lung
4	chr3:100787800-100791400	Enhancers	A549	lung
5	chr3:100787800-100791400	Enhancers	HUVEC	blood vessel
6	chr3:100787800-100792200	Enhancers	Hela-S3	cervix
7	chr3:100788000-100789800	Enhancers	HSMMtube	muscle
8	chr3:100788000-100791800	Enhancers	Fetal Intestine Large	intestine
9	chr3:100788200-100789400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr3:100788200-100789600	Enhancers	Colon Smooth Muscle	Colon
11	chr3:100788200-100789600	Enhancers	Osteobl	bone
12	chr3:100788200-100790800	Weak transcription	NHEK	skin
13	chr3:100788200-100791600	Enhancers	Fetal Intestine Small	intestine
14	chr3:100788400-100791000	Enhancers	Small Intestine	intestine
15	chr3:100788800-100789400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:100788800-100789400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:100788800-100789400	Enhancers	Duodenum Mucosa	Duodenum
18	chr3:100788800-100789400	Enhancers	HMEC	breast
19	chr3:100788800-100789600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:100788800-100789600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:100788800-100789800	Enhancers	Fetal Stomach	stomach
22	chr3:100788800-100790400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr3:100789000-100789400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:100789000-100789600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:100789000-100790000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr3:100789000-100791600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:100789000-100792200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr3:100789200-100789400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:100789200-100789400	Enhancers	Stomach Mucosa	stomach
30	chr3:100789200-100789600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:100789200-100789600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr3:100789200-100791200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:100789200-100791200	Weak transcription	NH-A	brain
34	chr3:100789200-100800800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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