Variant report

Variant	rs17500040
Chromosome Location	chr1:225647845-225647846
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225646024..225648970-chr1:225656905..225658780,2	K562	blood:
2	chr1:225632782..225636036-chr1:225646050..225649453,3	K562	blood:
3	chr1:225646305..225648757-chr1:225649524..225652760,3	K562	blood:
4	chr1:225646346..225648004-chr1:225649524..225651043,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17502497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2172423	1.00[AMR][1000 genomes];1.00[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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1004851	chr1:225614140-225684184	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv34905	chr1:225631404-225676582	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225634600-225648400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:225636200-225650000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:225637800-225648400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:225639400-225648000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:225642400-225650800	Weak transcription	Right Atrium	heart
6	chr1:225642400-225653000	Weak transcription	Primary B cells from cord blood	blood
7	chr1:225642400-225655200	Weak transcription	Small Intestine	intestine
8	chr1:225642600-225655000	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:225642800-225648000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:225642800-225648800	Weak transcription	Pancreas	Pancrea
11	chr1:225642800-225650000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:225642800-225652800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:225643000-225648000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:225643000-225648400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:225643000-225648400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:225643000-225648600	Weak transcription	Stomach Mucosa	stomach
17	chr1:225643000-225650400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:225643000-225651000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:225643200-225648000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:225643200-225648000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:225645600-225648000	Enhancers	Rectal Smooth Muscle	rectum
22	chr1:225645800-225648200	Enhancers	Hela-S3	cervix
23	chr1:225645800-225648800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:225645800-225648800	Enhancers	NH-A	brain
25	chr1:225645800-225648800	Enhancers	Osteobl	bone
26	chr1:225645800-225649400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:225646400-225648800	Weak transcription	Fetal Heart	heart
28	chr1:225646400-225653600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:225647000-225648000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:225647000-225648800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:225647000-225649000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:225647000-225649000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:225647000-225649000	Enhancers	NHDF-Ad	bronchial
34	chr1:225647000-225649000	Enhancers	NHLF	lung
35	chr1:225647000-225649200	Enhancers	NHEK	skin
36	chr1:225647000-225649400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:225647000-225649400	Enhancers	HSMM	muscle
38	chr1:225647000-225651600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr1:225647000-225651600	Enhancers	Fetal Muscle Leg	muscle
40	chr1:225647000-225653600	Enhancers	Esophagus	oesophagus
41	chr1:225647000-225654600	Enhancers	Fetal Thymus	thymus
42	chr1:225647000-225654800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:225647200-225649600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:225647200-225649800	Enhancers	Thymus	Thymus
45	chr1:225647200-225651600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr1:225647400-225648400	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr1:225647400-225651200	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr1:225647400-225654800	Enhancers	Primary T cells fromperipheralblood	blood
49	chr1:225647600-225648400	Weak transcription	Adipose Nuclei	Adipose
50	chr1:225647600-225648800	Enhancers	HMEC	breast

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