Variant report

Variant	rs552020573
Chromosome Location	chr1:168573102-168573103
allele	C/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:168572446..168573392-chr1:169317346..169318310,9	MCF-7	breast:
2	chr1:168572487..168573340-chr1:169680905..169681683,2	K562	blood:
3	chr1:168572840..168573443-chr1:169680986..169681557,2	MCF-7	breast:
4	chr1:168572944..168574727-chr1:169074415..169077052,3	MCF-7	breast:
5	chr1:168572929..168574536-chr1:169075342..169076920,2	MCF-7	breast:
6	chr1:168572596..168573422-chr1:169103197..169103848,3	MCF-7	breast:
7	chr1:168572452..168573406-chr1:169319144..169320245,3	MCF-7	breast:
8	chr1:168572846..168573369-chr1:168606389..168607281,2	MCF-7	breast:
9	chr1:168572454..168573380-chr1:169317397..169317940,2	K562	blood:
10	chr1:168572459..168573424-chr1:169317442..169318283,3	MCF-7	breast:
11	chr1:168408971..168409658-chr1:168572873..168573377,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143153	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014626	chr1:168441288-168642731	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535196	chr1:168441288-168642731	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1011821	chr1:168441488-168642592	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv535197	chr1:168441488-168642592	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription 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
5	nsv1008852	chr1:168449940-168643905	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv535198	chr1:168449940-168643905	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1007846	chr1:168449940-168687265	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv831836	chr1:168538779-168716956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3502093	chr1:168571578-168575276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3452567	chr1:168571796-168574521	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3452568	chr1:168572126-168574379	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3452566	chr1:168572158-168574372	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3502091	chr1:168572172-168574321	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3502092	chr1:168572173-168574298	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3502095	chr1:168572206-168574290	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3448747	chr1:168572246-168574240	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3502094	chr1:168572256-168574241	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3452569	chr1:168572260-168574239	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv3502096	chr1:168572260-168574239	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv19741	chr1:168572265-168574697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv548134	chr1:168572297-168573771	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv548135	chr1:168572297-168573787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv548136	chr1:168572297-168573903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv548137	chr1:168572297-168574042	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	nsv548138	chr1:168572297-168574182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	nsv548139	chr1:168572297-168574284	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv548140	chr1:168572453-168574042	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	nsv548141	chr1:168572859-168574042	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	nsv548142	chr1:168572859-168574182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	nsv548143	chr1:168573041-168574182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168568600-168578400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:168569200-168582600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:168569600-168578600	Weak transcription	Left Ventricle	heart
4	chr1:168569600-168582400	Weak transcription	Fetal Intestine Small	intestine
5	chr1:168569800-168578400	Weak transcription	Fetal Heart	heart
6	chr1:168570800-168578400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:168572600-168573200	Enhancers	Brain Hippocampus Middle	brain
8	chr1:168572600-168573200	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:168572600-168573200	Enhancers	A549	lung
10	chr1:168572800-168573200	Enhancers	Ovary	ovary
11	chr1:168572800-168573200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr1:168572800-168573400	Enhancers	Colon Smooth Muscle	Colon
13	chr1:168572800-168574200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:168573000-168573200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:168573000-168573200	Enhancers	Psoas Muscle	Psoas
16	chr1:168573000-168573200	Enhancers	Right Atrium	heart
17	chr1:168573000-168573200	Enhancers	Small Intestine	intestine
18	chr1:168573000-168573200	Enhancers	Hela-S3	cervix
19	chr1:168573000-168573400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr1:168573000-168573400	Enhancers	Right Ventricle	heart
21	chr1:168573000-168573400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr1:168573000-168573600	Enhancers	Skeletal Muscle Male	skeletal muscle

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