Variant report

Variant	rs201402139
Chromosome Location	chr1:113350989-113350990
allele	-/TTTGTTTG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113256402..113259663-chr1:113350471..113353019,3	K562	blood:
2	chr1:113262194..113266688-chr1:113347880..113352224,5	MCF-7	breast:
3	chr1:113350162..113352262-chr1:113614646..113616271,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155367	Chromatin interaction
ENSG00000198799	Chromatin interaction
ENSG00000261595	Chromatin interaction
ENSG00000238198	Chromatin interaction
ENSG00000184599	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv818378	chr1:113263711-113434818	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1008434	chr1:113288282-113447426	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
12	nsv999123	chr1:113297485-113352172	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv872160	chr1:113301657-113409751	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv547567	chr1:113313563-113384015	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	esv2762185	chr1:113346108-113351401	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv1000352	chr1:113350929-113405903	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113337200-113351800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:113342000-113361800	Weak transcription	Right Atrium	heart
3	chr1:113347000-113352200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:113347200-113351600	Weak transcription	Stomach Mucosa	stomach
5	chr1:113347600-113351800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:113348200-113352000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:113348600-113352400	Enhancers	Placenta	Placenta
8	chr1:113348800-113351600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:113349000-113351000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:113349000-113351200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:113349000-113352000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:113349000-113352000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:113349200-113351800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:113349600-113351000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:113349600-113351000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:113350000-113351200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:113350200-113351200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:113350200-113352000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:113350200-113352200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:113350200-113352200	Enhancers	HSMMtube	muscle
21	chr1:113350400-113351600	Weak transcription	HMEC	breast
22	chr1:113350400-113351800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:113350400-113355600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:113350600-113351200	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr1:113350600-113351600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:113350600-113351600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:113350600-113351600	Weak transcription	NHEK	skin
28	chr1:113350600-113351800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:113350600-113351800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:113350600-113351800	Weak transcription	Psoas Muscle	Psoas
31	chr1:113350600-113352000	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:113350800-113351000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:113350800-113351000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr1:113350800-113351800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:113350800-113351800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:113350800-113351800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:113350800-113351800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:113350800-113352000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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