Variant report

Variant	rs376207721
Chromosome Location	chr1:46117256-46117257
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	chr1:46113919..46122142-chr1:46149927..46154523,9	K562	blood:
2	chr1:46117210..46121553-chr1:46125649..46128637,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC17-3	chr1:46116711-46117498	NONHSAT002957

Variant related genes	Relation type
ENSG00000159596	Chromatin interaction
ENSG00000159592	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
2	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
3	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
4	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
5	nsv1011587	chr1:46051672-46244492	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv1014128	chr1:46097670-46394540	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv945921	chr1:46116515-46118136	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46053200-46127400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:46087600-46129200	Strong transcription	Fetal Thymus	thymus
3	chr1:46088600-46127400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:46089600-46126400	Strong transcription	Primary T cells from cord blood	blood
5	chr1:46089800-46127000	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:46091000-46126400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr1:46091200-46120400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:46091200-46120800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:46091200-46127000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:46091200-46127000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:46091200-46127200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:46091200-46128200	Strong transcription	Dnd41	blood
13	chr1:46091400-46127000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:46091400-46127000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:46091400-46127000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:46092800-46120200	Strong transcription	HSMM	muscle
17	chr1:46093200-46127000	Strong transcription	K562	blood
18	chr1:46097200-46126800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:46098400-46133400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:46100200-46135600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:46106200-46140000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:46106400-46120200	Weak transcription	Psoas Muscle	Psoas
23	chr1:46110600-46120200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:46110600-46122400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:46111200-46120200	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr1:46111400-46122200	Strong transcription	GM12878-XiMat	blood
27	chr1:46111400-46126200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:46111400-46126400	Strong transcription	Fetal Muscle Leg	muscle
29	chr1:46111400-46126800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:46111600-46126000	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:46112400-46120800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:46112600-46126800	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr1:46112600-46127000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:46112800-46119000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:46112800-46121000	Strong transcription	Fetal Intestine Large	intestine
36	chr1:46112800-46122000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr1:46112800-46126800	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr1:46113000-46120400	Strong transcription	Osteobl	bone
39	chr1:46113000-46121000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:46113000-46121800	Strong transcription	HepG2	liver
41	chr1:46113000-46126600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:46113000-46126800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:46113000-46127000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr1:46113200-46119200	Strong transcription	Fetal Lung	lung
45	chr1:46113200-46127000	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:46113200-46128000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:46113600-46122200	Strong transcription	Liver	Liver
48	chr1:46113600-46124600	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:46113600-46126000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr1:46113800-46118800	Weak transcription	Small Intestine	intestine

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