Variant report

Variant	rs564060304
Chromosome Location	chr3:46423611-46423612
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46414355..46417313-chr3:46422093..46423831,2	K562	blood:
2	chr3:46420928..46423796-chr3:46462092..46464094,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2756988	chr3:46419634-46444794	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759146	chr3:46419634-46444794	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv10267	chr3:46423130-46440713	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46404400-46424600	Weak transcription	Spleen	Spleen
2	chr3:46420400-46425400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr3:46420400-46427600	Weak transcription	Pancreas	Pancrea
4	chr3:46421400-46426000	Enhancers	Fetal Lung	lung
5	chr3:46421600-46424000	Enhancers	Fetal Brain Male	brain
6	chr3:46421800-46425000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:46422000-46423800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:46422000-46424000	Enhancers	Ovary	ovary
9	chr3:46422000-46425200	Enhancers	Colonic Mucosa	Colon
10	chr3:46422200-46425400	Enhancers	Stomach Mucosa	stomach
11	chr3:46422200-46435200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:46422400-46423800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr3:46422400-46423800	Enhancers	NHEK	skin
14	chr3:46422400-46424600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr3:46422400-46424800	Enhancers	Dnd41	blood
16	chr3:46422400-46425400	Weak transcription	Thymus	Thymus
17	chr3:46422400-46426400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:46422400-46427800	Weak transcription	Esophagus	oesophagus
19	chr3:46422400-46438600	Weak transcription	Psoas Muscle	Psoas
20	chr3:46422600-46424400	Weak transcription	Fetal Intestine Small	intestine
21	chr3:46422600-46424600	Weak transcription	Placenta	Placenta
22	chr3:46422600-46424800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:46422600-46425000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr3:46422600-46425000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr3:46422600-46425000	Weak transcription	Brain Substantia Nigra	brain
26	chr3:46422600-46427600	Weak transcription	Hela-S3	cervix
27	chr3:46422600-46435200	Weak transcription	Right Atrium	heart
28	chr3:46422800-46424400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:46422800-46424400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr3:46422800-46424400	Weak transcription	Fetal Thymus	thymus
31	chr3:46422800-46424600	Weak transcription	GM12878-XiMat	blood
32	chr3:46422800-46424800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr3:46422800-46424800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr3:46422800-46424800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr3:46422800-46424800	Weak transcription	HMEC	breast
36	chr3:46422800-46429400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr3:46423000-46424000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr3:46423000-46424200	Weak transcription	Primary B cells from cord blood	blood
39	chr3:46423000-46424400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr3:46423000-46424400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr3:46423000-46424400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:46423000-46424400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:46423000-46424400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr3:46423000-46424600	Weak transcription	Brain Anterior Caudate	brain
45	chr3:46423000-46424600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr3:46423000-46424800	Weak transcription	Brain Hippocampus Middle	brain
47	chr3:46423000-46424800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr3:46423000-46425000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr3:46423000-46425200	Weak transcription	Primary T cells from cord blood	blood
50	chr3:46423000-46425200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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