Variant report

Variant	rs3124234
Chromosome Location	chr1:160986315-160986316
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:160983600..160986564-chr1:161134823..161137756,2	K562	blood:
2	chr1:160969730..160971940-chr1:160985751..160989711,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158769	Chromatin interaction
ENSG00000143224	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17175540	1.00[AMR][1000 genomes]
rs17181932	1.00[AMR][1000 genomes]
rs2247479	1.00[AMR][1000 genomes]
rs2247799	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2247815	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2247824	0.90[AFR][1000 genomes]
rs2252346	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2481079	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2481082	0.88[AFR][1000 genomes]
rs2483146	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2779794	0.82[AFR][1000 genomes]
rs3007161	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3007162	0.90[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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv548058	chr1:160925455-160989614	Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160983600-160986400	Weak transcription	Gastric	stomach
2	chr1:160983600-160987400	Weak transcription	Fetal Brain Male	brain
3	chr1:160983600-160987800	Enhancers	Fetal Intestine Large	intestine
4	chr1:160983600-160989400	Enhancers	Placenta	Placenta
5	chr1:160983800-160987600	Weak transcription	Small Intestine	intestine
6	chr1:160984000-160987600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:160984200-160986400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:160984200-160986400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:160984200-160986400	Weak transcription	Hela-S3	cervix
10	chr1:160984200-160987400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:160984200-160987600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:160984200-160987600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:160984200-160987600	Weak transcription	Psoas Muscle	Psoas
14	chr1:160984200-160987800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:160984200-160988000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:160984200-160988000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:160984200-160988200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:160984200-160989400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:160984200-160989600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:160984200-160989600	Weak transcription	Brain Anterior Caudate	brain
21	chr1:160984200-160989800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:160984400-160986400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:160984400-160986400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:160984400-160986400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:160984400-160986600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:160984400-160987000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:160984400-160987000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:160984400-160987200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:160984400-160987600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:160984400-160987600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:160984400-160987600	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:160984400-160987600	Weak transcription	A549	lung
33	chr1:160984400-160987800	Weak transcription	Primary B cells from cord blood	blood
34	chr1:160984400-160987800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:160984400-160987800	Weak transcription	Fetal Lung	lung
36	chr1:160984400-160987800	Weak transcription	Fetal Thymus	thymus
37	chr1:160984400-160988600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr1:160984400-160989000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:160984400-160989400	Weak transcription	Primary T cells from cord blood	blood
40	chr1:160984400-160989400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:160984400-160989400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr1:160984400-160989400	Weak transcription	Fetal Kidney	kidney
43	chr1:160984400-160989600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr1:160984400-160989600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:160984400-160989800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr1:160984400-160989800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:160984400-160989800	Weak transcription	Right Ventricle	heart
48	chr1:160984400-160990800	Weak transcription	HSMMtube	muscle
49	chr1:160984400-160991000	Weak transcription	HSMM	muscle
50	chr1:160984600-160986400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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