Variant report

Variant	rs4251926
Chromosome Location	chr19:44152495-44152496
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44122161..44124462-chr19:44151464..44153007,2	K562	blood:
2	chr19:44122641..44124500-chr19:44151237..44153005,2	MCF-7	breast:
3	chr19:44151521..44153572-chr19:44155815..44158132,2	MCF-7	breast:
4	chr19:44143011..44145005-chr19:44150763..44153151,2	K562	blood:
5	chr19:44145301..44148682-chr19:44150930..44154485,3	K562	blood:
6	chr19:44111077..44113188-chr19:44150049..44152529,2	K562	blood:
7	chr19:44144010..44147763-chr19:44150755..44153654,4	MCF-7	breast:
8	chr19:44145301..44149219-chr19:44149901..44154485,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105767	Chromatin interaction
ENSG00000131116	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12609493	0.99[ASN][1000 genomes]
rs4251916	0.85[ASN][1000 genomes]
rs4251917	0.92[ASN][1000 genomes]
rs4251923	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251927	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4251928	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4251929	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4251931	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251934	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4251936	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58664350	0.94[ASN][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	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44144400-44153000	Weak transcription	Aorta	Aorta
2	chr19:44144600-44162200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:44144800-44156000	Weak transcription	K562	blood
4	chr19:44144800-44156800	Weak transcription	Right Atrium	heart
5	chr19:44145000-44152600	Weak transcription	Hela-S3	cervix
6	chr19:44145000-44152800	Weak transcription	Spleen	Spleen
7	chr19:44145000-44155600	Weak transcription	Pancreas	Pancrea
8	chr19:44145000-44156000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr19:44145000-44156000	Weak transcription	Colon Smooth Muscle	Colon
10	chr19:44145000-44156200	Weak transcription	Brain Anterior Caudate	brain
11	chr19:44145000-44156200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr19:44145000-44156400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:44145000-44158400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:44145000-44167400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr19:44145000-44168000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr19:44145000-44171400	Weak transcription	Fetal Heart	heart
17	chr19:44145000-44171600	Weak transcription	Esophagus	oesophagus
18	chr19:44145200-44162200	Weak transcription	Brain Germinal Matrix	brain
19	chr19:44145400-44171200	Weak transcription	Fetal Brain Female	brain
20	chr19:44145800-44153200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr19:44146000-44152800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr19:44146000-44156200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr19:44146400-44155800	Weak transcription	Brain Hippocampus Middle	brain
24	chr19:44147000-44155600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr19:44147000-44156000	Weak transcription	Brain Angular Gyrus	brain
26	chr19:44147000-44156200	Weak transcription	Stomach Mucosa	stomach
27	chr19:44147600-44152600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr19:44147800-44155800	Weak transcription	Primary T cells from cord blood	blood
29	chr19:44147800-44159600	Weak transcription	HSMMtube	muscle
30	chr19:44148000-44159800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:44148200-44158800	Weak transcription	Small Intestine	intestine
32	chr19:44148400-44152600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr19:44148400-44160000	Weak transcription	Fetal Thymus	thymus
34	chr19:44148800-44153000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr19:44148800-44155800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr19:44148800-44158800	Weak transcription	Thymus	Thymus
37	chr19:44149200-44169400	Weak transcription	Fetal Intestine Large	intestine
38	chr19:44149600-44152600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr19:44149600-44159000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr19:44150000-44153000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr19:44150000-44153400	Strong transcription	NHDF-Ad	bronchial
42	chr19:44150000-44156400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:44150000-44167800	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr19:44150000-44171800	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr19:44150200-44162400	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr19:44150200-44162400	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr19:44150200-44171400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:44150200-44171600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr19:44150400-44153400	Strong transcription	Stomach Smooth Muscle	stomach
50	chr19:44150400-44153600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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