Variant report

Variant	rs56139802
Chromosome Location	chr1:151873897-151873898
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151538923..151541258-chr1:151872642..151874684,2	K562	blood:
2	chr1:151873243..151875235-chr1:151881084..151883275,2	MCF-7	breast:
3	chr1:151867613..151869663-chr1:151873310..151875520,2	K562	blood:

Variant related genes	Relation type
ENSG00000159445	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11204891	1.00[EUR][1000 genomes]
rs12083618	1.00[EUR][1000 genomes]
rs12083746	1.00[EUR][1000 genomes]
rs13374906	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13375166	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57923558	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58275074	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126714	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126720	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547852	chr1:151843044-151955230	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151831000-151881400	Weak transcription	Ovary	ovary
2	chr1:151841200-151880800	Weak transcription	NHLF	lung
3	chr1:151844400-151881200	Weak transcription	Aorta	Aorta
4	chr1:151844800-151877600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:151854000-151880200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:151857600-151874200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:151860600-151877600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:151860800-151879800	Weak transcription	Brain Angular Gyrus	brain
9	chr1:151861600-151879800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:151862400-151880400	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:151864800-151881400	Weak transcription	Brain Substantia Nigra	brain
12	chr1:151866200-151879600	Weak transcription	NHDF-Ad	bronchial
13	chr1:151866200-151880200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:151866400-151874400	Weak transcription	Fetal Lung	lung
15	chr1:151866600-151879800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:151867200-151879600	Weak transcription	Fetal Stomach	stomach
17	chr1:151867400-151877600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr1:151867400-151877600	Weak transcription	Osteobl	bone
19	chr1:151867400-151878600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:151867600-151877200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:151867600-151877600	Weak transcription	NH-A	brain
22	chr1:151868000-151879800	Weak transcription	Liver	Liver
23	chr1:151868000-151880200	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:151868000-151880400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:151868000-151880800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:151871200-151875200	Weak transcription	Pancreas	Pancrea
27	chr1:151871200-151876400	Weak transcription	Psoas Muscle	Psoas
28	chr1:151871400-151874600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:151871400-151877600	Weak transcription	HMEC	breast
30	chr1:151871400-151878800	Weak transcription	Lung	lung
31	chr1:151871400-151878800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:151871400-151879800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:151871400-151880400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:151871600-151876200	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr1:151871600-151877000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr1:151871600-151877000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr1:151871600-151877600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:151871600-151877800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:151871800-151876000	Weak transcription	K562	blood
40	chr1:151871800-151878800	Weak transcription	Thymus	Thymus
41	chr1:151872400-151874400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:151872400-151877400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:151872600-151874800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:151872600-151874800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:151872800-151880800	Weak transcription	Right Atrium	heart
46	chr1:151873000-151874400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:151873000-151875400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:151873000-151876000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr1:151873000-151877000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr1:151873000-151880800	Weak transcription	Brain Cingulate Gyrus	brain

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