Variant report

Variant	rs117327036
Chromosome Location	chr1:114343254-114343255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114328514..114333064-chr1:114341407..114344891,4	MCF-7	breast:
2	chr1:114332261..114335677-chr1:114340949..114344053,3	K562	blood:
3	chr1:114300171..114302941-chr1:114342203..114345014,3	MCF-7	breast:
4	chr1:114336958..114338587-chr1:114341807..114343723,2	MCF-7	breast:
5	chr1:114339066..114343299-chr1:114345760..114348770,4	K562	blood:
6	chr1:114336286..114339654-chr1:114341574..114345200,4	K562	blood:

Variant related genes	Relation type
ENSG00000116793	Chromatin interaction

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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv831093	chr1:114254167-114378235	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers 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	44 gene(s)	inside rSNPs	diseases
3	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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	57 gene(s)	inside rSNPs	diseases
6	esv2461577	chr1:114342197-114343380	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114303400-114353800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:114309600-114353400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:114319800-114352600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:114320000-114354000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:114327400-114348800	Weak transcription	Spleen	Spleen
6	chr1:114327400-114351200	Weak transcription	Fetal Brain Male	brain
7	chr1:114329200-114345800	Weak transcription	Small Intestine	intestine
8	chr1:114329200-114353600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:114332000-114346400	Weak transcription	Gastric	stomach
10	chr1:114332000-114346800	Weak transcription	Brain Substantia Nigra	brain
11	chr1:114332400-114346600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:114332400-114347200	Weak transcription	Right Atrium	heart
13	chr1:114332400-114353400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:114336000-114351200	Weak transcription	Fetal Brain Female	brain
15	chr1:114336200-114351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:114336200-114351200	Weak transcription	HMEC	breast
17	chr1:114336400-114347000	Weak transcription	NHLF	lung
18	chr1:114336600-114347000	Weak transcription	NHEK	skin
19	chr1:114336600-114347200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:114336600-114347200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:114336800-114343600	Weak transcription	Pancreas	Pancrea
22	chr1:114336800-114346400	Weak transcription	Psoas Muscle	Psoas
23	chr1:114336800-114348400	Weak transcription	Fetal Stomach	stomach
24	chr1:114336800-114349400	Weak transcription	Lung	lung
25	chr1:114337200-114352600	Weak transcription	Fetal Kidney	kidney
26	chr1:114337600-114346000	Weak transcription	Stomach Mucosa	stomach
27	chr1:114337600-114347000	Weak transcription	Osteobl	bone
28	chr1:114338000-114347000	Weak transcription	Fetal Intestine Small	intestine
29	chr1:114338600-114347000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:114339000-114346800	Weak transcription	HUVEC	blood vessel
31	chr1:114340000-114351800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:114340400-114345400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:114340400-114347000	Weak transcription	HSMM	muscle
34	chr1:114340400-114347000	Weak transcription	NHDF-Ad	bronchial
35	chr1:114340400-114352800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:114340600-114343400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:114340600-114343600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr1:114340600-114343600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:114340600-114345400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:114340600-114345400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:114340600-114346400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:114340600-114346400	Weak transcription	Placenta	Placenta
43	chr1:114340600-114346400	Weak transcription	Left Ventricle	heart
44	chr1:114340600-114346400	Weak transcription	Ovary	ovary
45	chr1:114340600-114346600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:114340600-114346600	Weak transcription	Fetal Intestine Large	intestine
47	chr1:114340600-114346800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:114340600-114346800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:114340600-114346800	Weak transcription	A549	lung
50	chr1:114340600-114346800	Weak transcription	HepG2	liver

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