Variant report

Variant	rs143248267
Chromosome Location	chr1:159897214-159897215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:159867714..159872753-chr1:159888238..159897653,26	MCF-7	breast:
2	chr1:159896799..159899500-chr1:160000053..160002131,2	K562	blood:
3	chr1:159895030..159897330-chr1:160336317..160337995,2	K562	blood:
4	chr1:159896747..159899727-chr1:160066907..160069830,2	K562	blood:
5	chr1:159895581..159897596-chr1:159914205..159917814,3	K562	blood:
6	chr1:159895690..159897538-chr1:159952889..159955183,2	MCF-7	breast:
7	chr1:159849524..159855838-chr1:159893211..159898295,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162729	Chromatin interaction
ENSG00000171786	Chromatin interaction
ENSG00000213085	Chromatin interaction
ENSG00000085552	Chromatin interaction
ENSG00000266458	Chromatin interaction
ENSG00000143315	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005195	chr1:159452759-159910337	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer 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 miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv872489	chr1:159844819-159940000	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv464150	chr1:159860917-159908393	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv548052	chr1:159860917-159908393	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv548053	chr1:159885500-159908393	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
6	nsv524006	chr1:159886422-159923111	Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv516637	chr1:159889686-159908393	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	62 gene(s)	inside rSNPs	diseases
8	nsv548054	chr1:159895979-159907441	Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159895600-159898200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:159895800-159898800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:159895800-159899000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:159895800-159899200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:159895800-159906600	Weak transcription	Small Intestine	intestine
6	chr1:159896000-159897400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:159896000-159897400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:159896000-159897600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:159896000-159898800	Enhancers	Pancreas	Pancrea
10	chr1:159896000-159899000	Weak transcription	Esophagus	oesophagus
11	chr1:159896000-159899200	Weak transcription	Gastric	stomach
12	chr1:159896000-159906000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:159896200-159897600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:159896200-159897600	Weak transcription	NHDF-Ad	bronchial
15	chr1:159896200-159898800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:159896200-159898800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:159896200-159899600	Weak transcription	Colonic Mucosa	Colon
18	chr1:159896200-159906000	Genic enhancers	Fetal Intestine Small	intestine
19	chr1:159896400-159897400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:159896400-159897400	Weak transcription	Liver	Liver
21	chr1:159896400-159897400	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:159896400-159897600	Weak transcription	Placenta	Placenta
23	chr1:159896400-159897600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:159896400-159897600	Strong transcription	NHEK	skin
25	chr1:159896400-159897800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:159896400-159899000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:159896400-159901000	Weak transcription	Fetal Thymus	thymus
28	chr1:159896400-159902200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:159896400-159906000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:159896400-159906000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:159896400-159906600	Weak transcription	Right Atrium	heart
32	chr1:159896600-159897400	Weak transcription	A549	lung
33	chr1:159896600-159897800	Weak transcription	HMEC	breast
34	chr1:159896600-159898000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr1:159896600-159898600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:159896600-159898800	Weak transcription	Stomach Mucosa	stomach
37	chr1:159896600-159899400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:159896600-159900600	Genic enhancers	Fetal Intestine Large	intestine
39	chr1:159896600-159906000	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr1:159896600-159906000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:159896600-159907200	Weak transcription	Fetal Heart	heart
42	chr1:159896600-159908600	Weak transcription	Fetal Kidney	kidney
43	chr1:159896800-159898800	Weak transcription	K562	blood
44	chr1:159896800-159899000	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:159897000-159897400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:159897000-159897400	Enhancers	Ovary	ovary
47	chr1:159897000-159898400	Enhancers	Duodenum Mucosa	Duodenum
48	chr1:159897000-159899000	Strong transcription	Fetal Stomach	stomach
49	chr1:159897000-159899800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:159897000-159902400	Strong transcription	Brain Germinal Matrix	brain

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