Variant report

Variant	rs191304324
Chromosome Location	chr7:53286429-53286430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017676	chr7:52932139-53350524	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv888034	chr7:53026365-53611898	Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv3516146	chr7:53099945-53356180	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3516147	chr7:53099945-53356180	Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1017269	chr7:53142462-53605487	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv538846	chr7:53142462-53605487	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv831002	chr7:53153000-53349016	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv888039	chr7:53232207-53611898	Weak transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1019093	chr7:53251834-53398932	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1024141	chr7:53261344-53573135	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv607010	chr7:53262051-53570145	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1025830	chr7:53270414-53311777	Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
13	nsv538847	chr7:53270414-53311777	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
14	nsv1023585	chr7:53285534-53322233	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53286200-53286800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr7:53286400-53286600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
3	chr7:53286400-53286600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
4	chr7:53286400-53286600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:53286400-53286600	Flanking Active TSS	Brain Germinal Matrix	brain
6	chr7:53286400-53286600	Active TSS	Brain Hippocampus Middle	brain
7	chr7:53286400-53286600	Active TSS	Fetal Brain Female	brain
8	chr7:53286400-53286600	Active TSS	Fetal Muscle Leg	muscle
9	chr7:53286400-53286800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr7:53286400-53286800	Active TSS	Fetal Muscle Trunk	muscle
11	chr7:53286400-53286800	Active TSS	Fetal Stomach	stomach
12	chr7:53286400-53286800	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr7:53286400-53287200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:53286400-53287200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:53286400-53287200	Active TSS	Brain Anterior Caudate	brain
16	chr7:53286400-53287200	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr7:53286400-53287200	Active TSS	Brain Substantia Nigra	brain
18	chr7:53286400-53287200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
19	chr7:53286400-53287200	Active TSS	NH-A	brain
20	chr7:53286400-53287400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr7:53286400-53287400	Active TSS	H9 Cell Line	embryonic stem cell
22	chr7:53286400-53287400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr7:53286400-53287400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr7:53286400-53287400	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr7:53286400-53287400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:53286400-53287400	Active TSS	Aorta	Aorta
27	chr7:53286400-53287400	Active TSS	Brain Cingulate Gyrus	brain
28	chr7:53286400-53287400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:53286400-53287400	Active TSS	Colon Smooth Muscle	Colon
30	chr7:53286400-53287400	Active TSS	Fetal Kidney	kidney
31	chr7:53286400-53287400	Active TSS	Ovary	ovary
32	chr7:53286400-53287400	Active TSS	Rectal Smooth Muscle	rectum
33	chr7:53286400-53287400	Active TSS	Right Atrium	heart
34	chr7:53286400-53287400	Active TSS	Right Ventricle	heart
35	chr7:53286400-53287600	Active TSS	HUVEC	blood vessel

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