Variant report

Variant	rs2183424
Chromosome Location	chr1:181005934-181005935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:181004524..181006524-chr1:181030397..181032585,2	K562	blood:
2	chr1:180990408..180995619-chr1:181003343..181007035,5	K562	blood:
3	chr1:180997971..181011022-chr1:181054648..181063248,33	K562	blood:
4	chr1:181003380..181006218-chr1:181095476..181098301,2	K562	blood:
5	chr1:181003253..181008679-chr1:181011469..181014538,5	MCF-7	breast:
6	chr1:180999745..181016101-chr1:181055432..181063450,33	K562	blood:
7	chr1:181004593..181007804-chr1:181008315..181013552,8	K562	blood:
8	chr1:180997760..181000553-chr1:181003294..181006111,2	MCF-7	breast:
9	chr1:181004788..181008643-chr1:181010792..181015908,7	K562	blood:
10	chr1:181005039..181007086-chr1:181081711..181083866,2	MCF-7	breast:
11	chr1:180993123..180994756-chr1:181005532..181007495,2	MCF-7	breast:
12	chr1:181004789..181007713-chr1:181048831..181050850,2	K562	blood:
13	chr1:181003285..181010147-chr1:181055895..181060690,15	MCF-7	breast:
14	chr1:180996013..180998343-chr1:181005290..181006932,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135823	Chromatin interaction
ENSG00000272198	Chromatin interaction
ENSG00000162783	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10910851	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12036052	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12036171	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12041646	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12740112	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	esv3342865	chr1:180933678-181018012	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv3383831	chr1:180937224-181029755	Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1011081	chr1:180973159-181135953	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:181002000-181006200	Enhancers	Small Intestine	intestine
2	chr1:181002600-181012200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:181003400-181006200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr1:181003800-181006800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:181003800-181009600	Weak transcription	Fetal Intestine Small	intestine
6	chr1:181003800-181012200	Weak transcription	Placenta	Placenta
7	chr1:181004000-181006600	Enhancers	Fetal Thymus	thymus
8	chr1:181004000-181007000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:181004000-181008000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:181004000-181008400	Weak transcription	Hela-S3	cervix
11	chr1:181004000-181008600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr1:181004000-181009400	Weak transcription	Stomach Mucosa	stomach
13	chr1:181004000-181009600	Weak transcription	A549	lung
14	chr1:181004000-181010000	Weak transcription	NHDF-Ad	bronchial
15	chr1:181004000-181010200	Weak transcription	Osteobl	bone
16	chr1:181004000-181010400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:181004000-181010400	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:181004000-181010600	Weak transcription	HMEC	breast
19	chr1:181004000-181012000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:181004000-181012000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:181004000-181013600	Weak transcription	Psoas Muscle	Psoas
22	chr1:181004000-181015600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:181004000-181025400	Weak transcription	Fetal Stomach	stomach
24	chr1:181004000-181025800	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:181004000-181026200	Weak transcription	Brain Anterior Caudate	brain
26	chr1:181004200-181006400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:181004200-181007800	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr1:181004200-181008200	Weak transcription	NHLF	lung
29	chr1:181004200-181010200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:181004200-181010600	Weak transcription	NHEK	skin
31	chr1:181004200-181012200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:181004800-181006000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr1:181004800-181006200	Enhancers	HepG2	liver
34	chr1:181004800-181006400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:181005000-181006000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:181005000-181006000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:181005000-181006200	Flanking Active TSS	K562	blood
38	chr1:181005000-181006400	Genic enhancers	Primary B cells from peripheral blood	blood
39	chr1:181005000-181006400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:181005000-181006400	Flanking Active TSS	GM12878-XiMat	blood
41	chr1:181005000-181006800	Genic enhancers	Primary B cells from cord blood	blood
42	chr1:181005000-181011800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:181005200-181006000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:181005200-181006000	Enhancers	Thymus	Thymus
45	chr1:181005200-181006400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr1:181005200-181011800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:181005200-181012200	Weak transcription	Lung	lung
48	chr1:181005400-181006000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr1:181005400-181006200	Genic enhancers	Primary T cells from cord blood	blood
50	chr1:181005400-181007000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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