Variant report

Variant	rs2171856
Chromosome Location	chr3:56815620-56815621
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4681859	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6769632	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6776400	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6787564	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7635288	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7640777	0.85[EUR][1000 genomes]
rs7646054	0.96[EUR][1000 genomes]
rs983739	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876818	chr3:56805376-56924711	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56764000-56815800	Weak transcription	Fetal Intestine Small	intestine
2	chr3:56793200-56817400	Weak transcription	Hela-S3	cervix
3	chr3:56796800-56816400	Weak transcription	Colonic Mucosa	Colon
4	chr3:56799000-56815800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:56805800-56816800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:56806400-56815800	Weak transcription	Esophagus	oesophagus
7	chr3:56806400-56816800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr3:56806400-56817000	Weak transcription	NHEK	skin
9	chr3:56807000-56833200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr3:56807400-56816000	Weak transcription	Fetal Intestine Large	intestine
11	chr3:56807600-56818000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr3:56807800-56817400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:56808000-56815800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr3:56808000-56815800	Weak transcription	HUVEC	blood vessel
15	chr3:56808200-56816800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:56808600-56816800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr3:56809000-56816800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr3:56809400-56815800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr3:56810000-56815800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:56810000-56816600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr3:56810000-56822200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:56810200-56817000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr3:56810400-56816000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:56810400-56816400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr3:56810400-56816400	Weak transcription	Fetal Muscle Leg	muscle
26	chr3:56810400-56817000	Weak transcription	Right Ventricle	heart
27	chr3:56810400-56817000	Weak transcription	Spleen	Spleen
28	chr3:56810400-56818000	Weak transcription	Placenta	Placenta
29	chr3:56810400-56819000	Weak transcription	Fetal Brain Female	brain
30	chr3:56810600-56815800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:56810600-56815800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:56810800-56816200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:56810800-56816400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr3:56811000-56815800	Weak transcription	Brain Hippocampus Middle	brain
35	chr3:56811000-56815800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr3:56811000-56815800	Weak transcription	HMEC	breast
37	chr3:56811000-56816400	Weak transcription	Brain Anterior Caudate	brain
38	chr3:56811000-56816400	Weak transcription	Fetal Lung	lung
39	chr3:56811200-56815800	Weak transcription	Fetal Kidney	kidney
40	chr3:56811600-56817000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr3:56811800-56816200	Weak transcription	HSMMtube	muscle
42	chr3:56811800-56816400	Genic enhancers	Dnd41	blood
43	chr3:56812000-56815800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr3:56812000-56815800	Weak transcription	Gastric	stomach
45	chr3:56812000-56815800	Weak transcription	Pancreas	Pancrea
46	chr3:56812000-56815800	Weak transcription	Small Intestine	intestine
47	chr3:56812000-56816000	Weak transcription	Right Atrium	heart
48	chr3:56812000-56816400	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr3:56812000-56816400	Weak transcription	Brain Substantia Nigra	brain
50	chr3:56812000-56817000	Weak transcription	Brain Cingulate Gyrus	brain

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