Variant report

Variant	rs142857404
Chromosome Location	chr1:97288602-97288603
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	chr1:97288377..97289965-chr1:97295534..97298033,2	K562	blood:
2	chr1:97286782..97290614-chr1:97293189..97295188,3	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	nsv830681	chr1:97165786-97338064	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv1797391	chr1:97188394-97293023	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv1801594	chr1:97188394-97293023	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1966	chr1:97287841-97332500	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3364532	chr1:97288577-97288993	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97219000-97291200	Weak transcription	Pancreas	Pancrea
2	chr1:97228600-97289400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:97240600-97292400	Weak transcription	Lung	lung
4	chr1:97254800-97293600	Weak transcription	GM12878-XiMat	blood
5	chr1:97258800-97292200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:97267400-97289400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:97267400-97300800	Weak transcription	Fetal Stomach	stomach
8	chr1:97267800-97291000	Weak transcription	Fetal Intestine Small	intestine
9	chr1:97270400-97293400	Weak transcription	HSMMtube	muscle
10	chr1:97270400-97295800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:97270600-97291400	Weak transcription	Left Ventricle	heart
12	chr1:97272000-97290600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:97272000-97290800	Weak transcription	Fetal Brain Female	brain
14	chr1:97272200-97301400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:97273200-97291600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:97274000-97291200	Weak transcription	Fetal Heart	heart
17	chr1:97278600-97291200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:97278800-97292600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:97279000-97294400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:97279000-97297200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:97279400-97293200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:97279400-97299400	Weak transcription	Primary T cells from cord blood	blood
23	chr1:97279400-97303400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:97279600-97289200	Weak transcription	Osteobl	bone
25	chr1:97279800-97294400	Weak transcription	NHEK	skin
26	chr1:97279800-97306000	Weak transcription	Fetal Kidney	kidney
27	chr1:97280000-97289400	Weak transcription	Liver	Liver
28	chr1:97280000-97290200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:97280000-97290200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:97280000-97292600	Weak transcription	NH-A	brain
31	chr1:97280400-97291200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:97280600-97289400	Weak transcription	Adipose Nuclei	Adipose
33	chr1:97280600-97292200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:97280600-97303400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:97280800-97291800	Weak transcription	Hela-S3	cervix
36	chr1:97281600-97289400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:97281600-97291800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:97281800-97291000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:97281800-97292800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:97281800-97293200	Weak transcription	Thymus	Thymus
41	chr1:97281800-97293600	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:97282000-97291000	Weak transcription	HMEC	breast
43	chr1:97282000-97292400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr1:97282000-97292400	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:97282200-97299800	Weak transcription	Primary B cells from cord blood	blood
46	chr1:97282600-97293400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:97282600-97308400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:97282800-97298400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:97283200-97302200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:97284600-97291400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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