Variant report

Variant	rs185064674
Chromosome Location	chr1:47801204-47801205
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:47655819..47657436-chr1:47799137..47801227,2	K562	blood:
2	chr1:47654478..47656007-chr1:47798811..47801587,2	MCF-7	breast:
3	chr1:47772551..47781833-chr1:47797933..47806586,42	K562	blood:
4	chr1:47800841..47802489-chr1:47901658..47903187,2	K562	blood:
5	chr1:47696136..47700063-chr1:47798634..47802913,8	K562	blood:
6	chr1:47758513..47761488-chr1:47799880..47802069,3	K562	blood:
7	chr1:47647073..47651610-chr1:47798272..47801392,5	K562	blood:
8	chr1:47696333..47699229-chr1:47798340..47801363,4	K562	blood:
9	chr1:47799619..47801887-chr1:47831547..47833405,2	K562	blood:
10	chr1:47765608..47767476-chr1:47799795..47801980,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000123473	Chromatin interaction
ENSG00000162366	Chromatin interaction
ENSG00000186564	Chromatin interaction
ENSG00000162367	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3390574	chr1:47778981-47803091	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv3380025	chr1:47798390-47801238	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
3	esv3367765	chr1:47800989-47801230	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47799000-47801800	Active TSS	K562	blood
2	chr1:47799200-47802400	Active TSS	GM12878-XiMat	blood
3	chr1:47800400-47834600	Weak transcription	Spleen	Spleen
4	chr1:47800600-47801400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:47800600-47801400	Flanking Active TSS	Dnd41	blood
6	chr1:47800600-47801600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:47800600-47801800	Enhancers	Placenta	Placenta
8	chr1:47800600-47806000	Weak transcription	Ovary	ovary
9	chr1:47800600-47808800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:47800600-47816000	Weak transcription	Lung	lung
11	chr1:47800600-47834400	Weak transcription	Gastric	stomach
12	chr1:47800600-47854600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:47800800-47801400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:47800800-47801400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:47800800-47801400	Enhancers	Primary B cells from cord blood	blood
16	chr1:47800800-47801600	Enhancers	Primary B cells from peripheral blood	blood
17	chr1:47800800-47801600	Enhancers	Fetal Muscle Trunk	muscle
18	chr1:47800800-47801600	Flanking Active TSS	HepG2	liver
19	chr1:47800800-47802400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:47800800-47802400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr1:47800800-47802400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr1:47800800-47802400	Enhancers	Colonic Mucosa	Colon
23	chr1:47800800-47802400	Enhancers	Pancreas	Pancrea
24	chr1:47800800-47802600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:47800800-47802600	Enhancers	Left Ventricle	heart
26	chr1:47800800-47814200	Weak transcription	Aorta	Aorta
27	chr1:47800800-47819600	Weak transcription	Esophagus	oesophagus
28	chr1:47801000-47801400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr1:47801000-47801400	Enhancers	Liver	Liver
30	chr1:47801000-47801400	Enhancers	Fetal Muscle Leg	muscle
31	chr1:47801000-47801400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:47801000-47801400	Enhancers	Stomach Mucosa	stomach
33	chr1:47801000-47801400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr1:47801000-47801600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:47801000-47801600	Enhancers	NH-A	brain
36	chr1:47801000-47801800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:47801000-47802000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:47801000-47802000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:47801000-47802000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr1:47801000-47802000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr1:47801000-47802000	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:47801000-47802000	Weak transcription	Fetal Heart	heart
43	chr1:47801000-47802000	Enhancers	Fetal Stomach	stomach
44	chr1:47801000-47802200	Weak transcription	Small Intestine	intestine
45	chr1:47801000-47802200	Enhancers	HUVEC	blood vessel
46	chr1:47801000-47802400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr1:47801000-47802600	Enhancers	Fetal Intestine Large	intestine
48	chr1:47801000-47802600	Enhancers	Fetal Thymus	thymus
49	chr1:47801000-47803400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:47801000-47803600	Enhancers	Fetal Brain Male	brain

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