Variant report

Variant	rs41272631
Chromosome Location	chr3:100020861-100020862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10049208	0.83[EUR][1000 genomes]
rs10222473	0.83[EUR][1000 genomes]
rs13318574	0.83[EUR][1000 genomes]
rs13326259	0.83[EUR][1000 genomes]
rs16842034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17314977	1.00[EUR][1000 genomes]
rs28655373	0.83[EUR][1000 genomes]
rs41272629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41272633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62636640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62636641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6762871	1.00[EUR][1000 genomes]
rs6768684	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6781780	1.00[EUR][1000 genomes]
rs6788807	1.00[EUR][1000 genomes]
rs6790187	1.00[EUR][1000 genomes]
rs6794365	1.00[EUR][1000 genomes]
rs6807137	1.00[EUR][1000 genomes]
rs72936590	0.83[EUR][1000 genomes]
rs73860636	0.83[EUR][1000 genomes]
rs7637142	0.83[EUR][1000 genomes]
rs7652596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9809742	0.83[EUR][1000 genomes]
rs9844356	0.83[EUR][1000 genomes]
rs9855368	0.83[EUR][1000 genomes]
rs9867520	0.83[EUR][1000 genomes]
rs9871870	0.83[EUR][1000 genomes]
rs9872028	0.83[EUR][1000 genomes]
rs9876856	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1003924	chr3:99933762-100112690	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv869690	chr3:99984442-100054949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99980600-100037200	Weak transcription	Spleen	Spleen
2	chr3:99980600-100053200	Weak transcription	Gastric	stomach
3	chr3:99981200-100030800	Weak transcription	Fetal Heart	heart
4	chr3:99986600-100024800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr3:99989000-100025000	Weak transcription	Fetal Brain Female	brain
6	chr3:99990600-100030600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:99990800-100021400	Weak transcription	Psoas Muscle	Psoas
8	chr3:99994400-100040800	Weak transcription	Esophagus	oesophagus
9	chr3:99996000-100052800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:99996000-100053000	Weak transcription	Small Intestine	intestine
11	chr3:99996400-100025600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:99997800-100031800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr3:99998400-100028000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:99998600-100026400	Strong transcription	HSMM	muscle
15	chr3:99998600-100033800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:99998800-100021800	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr3:99998800-100026600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:100005200-100021600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:100007000-100045000	Weak transcription	Lung	lung
20	chr3:100007800-100035800	Weak transcription	A549	lung
21	chr3:100008200-100022200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr3:100008400-100022600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr3:100008400-100026800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:100008600-100053000	Weak transcription	Aorta	Aorta
25	chr3:100009000-100025400	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr3:100009200-100045000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr3:100009400-100022600	Weak transcription	HSMMtube	muscle
28	chr3:100009400-100031800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr3:100009600-100024600	Weak transcription	HUVEC	blood vessel
30	chr3:100010600-100022400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:100011000-100021000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:100011600-100025600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr3:100011800-100021200	Weak transcription	Thymus	Thymus
34	chr3:100011800-100025200	Weak transcription	Right Ventricle	heart
35	chr3:100011800-100028400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr3:100012400-100021400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:100013200-100022000	Strong transcription	Placenta	Placenta
38	chr3:100013400-100027800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:100013600-100021200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:100013600-100021800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:100013600-100026600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr3:100013600-100028000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr3:100013800-100022600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:100013800-100028200	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr3:100014400-100022000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr3:100014400-100030000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr3:100014600-100042200	Weak transcription	Fetal Brain Male	brain
48	chr3:100014800-100025200	Weak transcription	GM12878-XiMat	blood
49	chr3:100014800-100029400	Strong transcription	Liver	Liver
50	chr3:100015400-100053200	Weak transcription	Placenta Amnion	Placenta Amnion

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