Variant report

Variant	rs11542551
Chromosome Location	chr1:150619176-150619177
allele	A/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150617651..150620563-chr1:150622833..150625095,2	K562	blood:
2	chr1:150551148..150553781-chr1:150617340..150620166,2	MCF-7	breast:
3	chr1:150597525..150603914-chr1:150613760..150620502,7	MCF-7	breast:
4	chr1:150595731..150598614-chr1:150616127..150619225,3	K562	blood:
5	chr1:150613590..150615914-chr1:150618065..150619997,3	MCF-7	breast:
6	chr1:150602761..150604761-chr1:150618641..150620910,2	MCF-7	breast:
7	chr1:150613621..150615640-chr1:150617612..150620066,3	K562	blood:
8	chr1:150595731..150598614-chr1:150617206..150619225,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143420	Chromatin interaction
ENSG00000143384	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv872417	chr1:150618632-150759979	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2427260	chr1:150618634-150620148	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150603000-150619600	Weak transcription	Small Intestine	intestine
2	chr1:150603200-150619600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:150603200-150619600	Weak transcription	Fetal Intestine Small	intestine
4	chr1:150603200-150619600	Weak transcription	Fetal Stomach	stomach
5	chr1:150603200-150619800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:150603200-150620000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:150603200-150620000	Weak transcription	Gastric	stomach
8	chr1:150603200-150620000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:150603200-150620600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:150603200-150620600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:150603200-150661200	Weak transcription	Brain Substantia Nigra	brain
12	chr1:150603400-150620000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:150603400-150620400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:150603400-150620600	Weak transcription	Right Ventricle	heart
15	chr1:150603400-150620600	Weak transcription	A549	lung
16	chr1:150603400-150620800	Weak transcription	Spleen	Spleen
17	chr1:150603400-150621600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:150603400-150621600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:150603400-150668200	Weak transcription	Brain Germinal Matrix	brain
20	chr1:150603600-150619800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:150603800-150619400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:150604200-150619600	Weak transcription	Left Ventricle	heart
23	chr1:150604200-150620400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:150607400-150620600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:150608000-150619600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:150608200-150619200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:150608600-150619400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:150608600-150619400	Weak transcription	Stomach Mucosa	stomach
29	chr1:150608600-150619600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:150608600-150620600	Weak transcription	Hela-S3	cervix
31	chr1:150608600-150668600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:150609200-150620200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:150611200-150620800	Weak transcription	Pancreas	Pancrea
34	chr1:150612600-150619600	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:150612600-150634400	Weak transcription	Psoas Muscle	Psoas
36	chr1:150613000-150619400	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:150613400-150619600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:150614000-150619600	Weak transcription	Thymus	Thymus
39	chr1:150614000-150619800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:150614000-150620000	Weak transcription	K562	blood
41	chr1:150614400-150620000	Weak transcription	HepG2	liver
42	chr1:150614400-150620400	Weak transcription	HSMM	muscle
43	chr1:150614600-150620600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:150614800-150619600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:150615000-150619200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:150615000-150619800	Weak transcription	Esophagus	oesophagus
47	chr1:150615000-150620800	Weak transcription	NHDF-Ad	bronchial
48	chr1:150615000-150631000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:150615800-150620400	Weak transcription	HSMMtube	muscle
50	chr1:150616200-150619200	Weak transcription	Brain Anterior Caudate	brain

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