Variant report

Variant	rs72995638
Chromosome Location	chr3:105472977-105472978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16851398	1.00[AMR][1000 genomes]
rs16851409	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16851417	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16851429	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16851434	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16851455	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16851457	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16851521	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16851530	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16851542	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16851557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16851606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35835913	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55804660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56323302	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56405245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60520841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72993723	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997617	1.00[AFR][1000 genomes]
rs72997628	1.00[AMR][1000 genomes]
rs7612706	1.00[AMR][1000 genomes]
rs7634544	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877306	chr3:105372196-105495841	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv877308	chr3:105373836-105495841	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv877309	chr3:105373836-105542435	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2755185	chr3:105378310-105597310	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv877310	chr3:105409321-105495841	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv591244	chr3:105438320-105495841	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv591246	chr3:105439522-105504129	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv877311	chr3:105449986-105493286	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105439000-105475800	Weak transcription	Esophagus	oesophagus
2	chr3:105439000-105477400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:105439000-105477400	Weak transcription	Lung	lung
4	chr3:105439000-105477400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr3:105439200-105477200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:105446600-105477600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:105452400-105477400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:105452800-105477400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:105458000-105475600	Weak transcription	Pancreas	Pancrea
10	chr3:105464200-105477400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr3:105464200-105478200	Weak transcription	Right Atrium	heart
12	chr3:105464400-105477400	Weak transcription	Fetal Lung	lung
13	chr3:105464600-105477400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:105464800-105477400	Weak transcription	Liver	Liver
15	chr3:105464800-105477400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:105464800-105482600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:105465600-105478200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:105465800-105477200	Weak transcription	Fetal Stomach	stomach
19	chr3:105465800-105477400	Weak transcription	Fetal Intestine Large	intestine
20	chr3:105465800-105477400	Weak transcription	Fetal Muscle Leg	muscle
21	chr3:105465800-105477400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr3:105465800-105483400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:105466000-105477200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr3:105466000-105477200	Weak transcription	Right Ventricle	heart
25	chr3:105466000-105477400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr3:105466000-105481200	Weak transcription	Fetal Kidney	kidney
27	chr3:105466200-105477400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr3:105466400-105477400	Weak transcription	NHLF	lung
29	chr3:105466400-105477600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:105466600-105481400	Weak transcription	HepG2	liver
31	chr3:105466800-105477000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr3:105467200-105476600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr3:105467400-105473200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:105467400-105477400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:105467600-105475800	Weak transcription	Ovary	ovary
36	chr3:105467600-105477400	Weak transcription	Aorta	Aorta
37	chr3:105467600-105478000	Weak transcription	Colonic Mucosa	Colon
38	chr3:105467600-105480800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr3:105467600-105509400	Weak transcription	Stomach Mucosa	stomach
40	chr3:105467800-105475600	Weak transcription	Left Ventricle	heart
41	chr3:105467800-105475600	Weak transcription	Small Intestine	intestine
42	chr3:105467800-105475800	Weak transcription	Psoas Muscle	Psoas
43	chr3:105467800-105477400	Weak transcription	Adipose Nuclei	Adipose
44	chr3:105467800-105477600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:105468400-105477400	Weak transcription	Colon Smooth Muscle	Colon
46	chr3:105468800-105473600	Enhancers	Primary B cells from peripheral blood	blood
47	chr3:105470200-105473800	Enhancers	Primary B cells from cord blood	blood
48	chr3:105470200-105473800	Enhancers	Dnd41	blood
49	chr3:105470200-105477400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:105470400-105477400	Weak transcription	Placenta	Placenta

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