Variant report

Variant	rs201488330
Chromosome Location	chr1:85912555-85912556
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85863358..85866240-chr1:85910699..85913658,2	K562	blood:
2	chr1:85911377..85913833-chr1:85913866..85915628,2	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv441699	chr1:85911291-85915402	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85886400-85914200	Weak transcription	HSMMtube	muscle
2	chr1:85893800-85916800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:85899200-85914800	Weak transcription	Esophagus	oesophagus
4	chr1:85901400-85923000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:85904400-85914800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:85905200-85912600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:85905200-85912800	Weak transcription	Left Ventricle	heart
8	chr1:85905200-85913000	Weak transcription	Fetal Kidney	kidney
9	chr1:85905200-85914800	Weak transcription	Small Intestine	intestine
10	chr1:85905400-85913400	Weak transcription	Fetal Lung	lung
11	chr1:85906800-85912800	Weak transcription	Adipose Nuclei	Adipose
12	chr1:85906800-85913000	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:85906800-85914200	Weak transcription	Ovary	ovary
14	chr1:85907000-85913400	Weak transcription	HepG2	liver
15	chr1:85907000-85914200	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:85907000-85914600	Weak transcription	Fetal Stomach	stomach
17	chr1:85907000-85914800	Weak transcription	Aorta	Aorta
18	chr1:85907000-85914800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:85907000-85919600	Weak transcription	Right Atrium	heart
20	chr1:85907200-85912800	Weak transcription	Psoas Muscle	Psoas
21	chr1:85909200-85916600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:85910200-85913200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:85910200-85913400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:85910400-85916000	Weak transcription	HMEC	breast
25	chr1:85910600-85912800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:85910600-85912800	Weak transcription	Fetal Intestine Small	intestine
27	chr1:85910600-85912800	Weak transcription	NH-A	brain
28	chr1:85910600-85914800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:85910800-85912800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:85911200-85912600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:85911200-85913000	Genic enhancers	Osteobl	bone
32	chr1:85911200-85914000	Weak transcription	Stomach Mucosa	stomach
33	chr1:85911200-85917200	Enhancers	NHDF-Ad	bronchial
34	chr1:85911400-85914800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:85911400-85915000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr1:85911600-85912800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:85911800-85912800	Weak transcription	Fetal Intestine Large	intestine
38	chr1:85911800-85916600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:85912000-85913000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:85912000-85914400	Enhancers	H9 Cell Line	embryonic stem cell
41	chr1:85912000-85914400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr1:85912000-85914600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:85912200-85912800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:85912200-85913000	Enhancers	Pancreas	Pancrea
45	chr1:85912200-85913800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr1:85912200-85913800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr1:85912200-85913800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:85912200-85914000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr1:85912200-85914000	Enhancers	HUVEC	blood vessel
50	chr1:85912200-85914200	Enhancers	HUES6 Cell Line	embryonic stem cell

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