Variant report

Variant	rs2841434
Chromosome Location	chr1:213404795-213404796
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213402752..213406485-chr1:213407336..213409519,4	K562	blood:
2	chr1:213404542..213407236-chr1:213407336..213409957,4	K562	blood:
3	chr1:213403677..213405809-chr1:213417611..213420173,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2817983	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2841428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2841431	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2841432	0.84[AFR][1000 genomes]
rs2841435	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2841436	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2936009	0.82[YRI][hapmap]
rs3010793	1.00[YRI][hapmap]
rs4256785	0.90[AFR][1000 genomes]
rs4295858	0.90[AFR][1000 genomes]
rs4411110	0.88[AFR][1000 genomes]
rs7354948	0.85[AFR][1000 genomes]
rs7530520	0.85[AFR][1000 genomes]
rs9430119	0.82[AFR][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	esv3392967	chr1:213271844-213490132	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv1012014	chr1:213371127-213423214	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1001201	chr1:213385827-213428021	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213326600-213422200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:213340600-213424600	Weak transcription	Pancreas	Pancrea
3	chr1:213360400-213405200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:213362200-213415400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:213370800-213427600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:213372000-213405200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:213372600-213413800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:213372800-213414000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:213373000-213405200	Weak transcription	Left Ventricle	heart
10	chr1:213373000-213414200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:213373000-213423000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:213373200-213405000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:213373200-213417000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr1:213375800-213405200	Weak transcription	Psoas Muscle	Psoas
15	chr1:213375800-213405200	Weak transcription	HSMM	muscle
16	chr1:213376800-213414200	Weak transcription	Brain Anterior Caudate	brain
17	chr1:213378800-213405200	Weak transcription	K562	blood
18	chr1:213378800-213421200	Weak transcription	Fetal Kidney	kidney
19	chr1:213379000-213405200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:213381600-213425000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:213382600-213405000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:213385600-213407000	Weak transcription	Stomach Mucosa	stomach
23	chr1:213386000-213405400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:213386600-213404800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:213387400-213414000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:213387600-213405000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:213388000-213405200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:213388000-213405200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:213388000-213414400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:213388000-213424600	Weak transcription	Gastric	stomach
31	chr1:213388200-213414000	Weak transcription	Aorta	Aorta
32	chr1:213388200-213414000	Weak transcription	Liver	Liver
33	chr1:213388200-213414200	Weak transcription	Ovary	ovary
34	chr1:213388200-213417200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:213388200-213426200	Weak transcription	Lung	lung
36	chr1:213388200-213455400	Weak transcription	Placenta	Placenta
37	chr1:213388400-213405200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr1:213388400-213405200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:213388400-213405400	Weak transcription	Adipose Nuclei	Adipose
40	chr1:213388400-213407400	Weak transcription	Fetal Stomach	stomach
41	chr1:213388400-213407600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:213388400-213414000	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:213388400-213414200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:213388400-213414200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr1:213388400-213414200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:213388600-213404800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:213388600-213405200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:213388600-213405200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:213388600-213418200	Weak transcription	Fetal Intestine Small	intestine
50	chr1:213391200-213439200	Weak transcription	Primary B cells from cord blood	blood

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