Variant report

Variant	rs150411457
Chromosome Location	chr1:92765241-92765242
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr1:92764030-92765365	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:92763434-92766187	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:92763776-92765381	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:92763945-92765535	GM12891	blood:	n/a	n/a
5	MXI1	chr1:92763179-92765794	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr1:92763961-92765568	MCF10A-Er-Src	breast:	n/a	n/a
7	CHD1	chr1:92763931-92765499	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:92764054-92765573	IMR90	lung:	n/a	n/a
9	RFX5	chr1:92763816-92765287	Hela-S3	cervix:	n/a	n/a
10	REST	chr1:92763778-92765444	H1-neurons	neurons:	n/a	chr1:92764843-92764856
11	SIN3A	chr1:92763873-92765243	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr1:92763894-92765348	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:92494741..92496705-chr1:92764193..92766152,2	MCF-7	breast:
2	chr1:92762794..92765730-chr1:93295925..93298205,3	K562	blood:
3	chr1:92751701..92754444-chr1:92763776..92766491,2	MCF-7	breast:
4	chr1:92764074..92765656-chr1:93296705..93299037,2	K562	blood:
5	chr1:92764662..92766279-chr1:92768201..92769903,2	MCF-7	breast:

Variant related genes	Relation type
GLMN	TF binding region
ENSG00000174842	Chromatin interaction
ENSG00000122406	Chromatin interaction
ENSG00000172031	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv830592	chr1:92669282-92805629	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv870667	chr1:92697188-92813741	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv871352	chr1:92761127-92807238	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv870854	chr1:92765102-92807238	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv871387	chr1:92765102-92813741	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92762800-92767200	Active TSS	GM12878-XiMat	blood
2	chr1:92763200-92765400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:92763200-92765400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:92763200-92765400	Active TSS	HMEC	breast
5	chr1:92763200-92765800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:92763200-92765800	Active TSS	A549	lung
7	chr1:92763200-92766200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:92763200-92766800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr1:92763400-92765400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:92763400-92765400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:92763400-92765400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:92763400-92765400	Active TSS	K562	blood
13	chr1:92763400-92765800	Active TSS	H1 Cell Line	embryonic stem cell
14	chr1:92763400-92765800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:92763400-92765800	Active TSS	HepG2	liver
16	chr1:92763400-92766000	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr1:92763600-92765400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr1:92763600-92765400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:92763600-92765400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:92763600-92765400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:92763600-92765400	Active TSS	Fetal Brain Female	brain
22	chr1:92763600-92765400	Active TSS	Stomach Smooth Muscle	stomach
23	chr1:92763600-92765400	Active TSS	NHDF-Ad	bronchial
24	chr1:92763600-92765800	Active TSS	Fetal Intestine Large	intestine
25	chr1:92763800-92765400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr1:92763800-92765400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:92763800-92765400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:92763800-92765400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:92763800-92765400	Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr1:92763800-92765400	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr1:92763800-92765400	Active TSS	Fetal Muscle Trunk	muscle
32	chr1:92763800-92765400	Active TSS	Fetal Muscle Leg	muscle
33	chr1:92763800-92765400	Active TSS	Placenta	Placenta
34	chr1:92763800-92765400	Active TSS	Fetal Stomach	stomach
35	chr1:92763800-92765400	Active TSS	Right Ventricle	heart
36	chr1:92763800-92765400	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr1:92763800-92765600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr1:92763800-92765600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:92763800-92765600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:92763800-92765600	Active TSS	Psoas Muscle	Psoas
41	chr1:92763800-92765600	Active TSS	Right Atrium	heart
42	chr1:92763800-92765600	Active TSS	HSMM	muscle
43	chr1:92763800-92765600	Active TSS	HSMMtube	muscle
44	chr1:92763800-92765800	Active TSS	H9 Cell Line	embryonic stem cell
45	chr1:92763800-92765800	Active TSS	Ovary	ovary
46	chr1:92763800-92766000	Active TSS	Fetal Brain Male	brain
47	chr1:92763800-92766000	Active TSS	Fetal Intestine Small	intestine
48	chr1:92764000-92765400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:92764000-92765400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:92764000-92765400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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