Variant report

Variant	rs60170453
Chromosome Location	chr1:213235189-213235190
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213232021..213235868-chr1:213239449..213242510,4	K562	blood:
2	chr1:213228815..213232157-chr1:213233808..213236908,3	K562	blood:
3	chr1:213224588..213228373-chr1:213233540..213236741,3	K562	blood:
4	chr1:213224479..213226657-chr1:213232974..213235264,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136643	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17020073	1.00[AMR][1000 genomes]
rs17020325	1.00[AMR][1000 genomes]
rs35494356	1.00[AMR][1000 genomes]
rs55900853	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57998386	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60147631	1.00[AMR][1000 genomes]
rs61547363	1.00[AMR][1000 genomes]
rs74139107	1.00[AMR][1000 genomes]
rs74140541	1.00[AMR][1000 genomes]
rs74140549	1.00[AMR][1000 genomes]
rs74140554	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140555	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140557	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140559	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7520957	1.00[AMR][1000 genomes]
rs7533477	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv945623	chr1:213233652-213237222	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213225200-213253400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:213225200-213254400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:213225400-213254000	Weak transcription	Aorta	Aorta
4	chr1:213225400-213254000	Weak transcription	Left Ventricle	heart
5	chr1:213225400-213256600	Weak transcription	Ovary	ovary
6	chr1:213225600-213236000	Weak transcription	Right Atrium	heart
7	chr1:213225600-213243600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:213225600-213244000	Weak transcription	HSMM	muscle
9	chr1:213225800-213252800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:213225800-213254000	Weak transcription	Primary T cells from cord blood	blood
11	chr1:213226000-213254000	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:213226200-213243800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:213226200-213252800	Weak transcription	Fetal Stomach	stomach
14	chr1:213226800-213237400	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:213227000-213254000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:213227200-213243000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:213228000-213254200	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:213228600-213244000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:213228800-213238800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:213228800-213239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:213228800-213263200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:213229400-213239000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:213229400-213254200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:213229400-213283400	Weak transcription	Hela-S3	cervix
25	chr1:213229800-213239200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr1:213230000-213236200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:213230200-213238800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:213230200-213239200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:213230400-213239000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:213231600-213254000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:213232800-213236400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:213232800-213239000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:213232800-213254200	Weak transcription	HepG2	liver
34	chr1:213233000-213262600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:213233200-213239000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr1:213233400-213239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:213234400-213252800	Weak transcription	Fetal Intestine Small	intestine
38	chr1:213234600-213236200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:213234800-213236200	Weak transcription	Psoas Muscle	Psoas
40	chr1:213234800-213243200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:213234800-213243400	Weak transcription	GM12878-XiMat	blood
42	chr1:213234800-213261000	Weak transcription	Stomach Mucosa	stomach
43	chr1:213235000-213235200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:213235000-213238800	Weak transcription	K562	blood
45	chr1:213235000-213254200	Weak transcription	Primary B cells from cord blood	blood

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