Variant report

Variant	rs1541516
Chromosome Location	chr7:31122542-31122543
allele	A/G
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	REST	chr7:31122515-31122756	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:31120664..31122935-chr7:31126269..31127874,2	K562	blood:
2	chr7:31096673..31098755-chr7:31119643..31122776,3	K562	blood:

Variant related genes	Relation type
ADCYAP1R1	TF binding region
ENSG00000078549	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	nsv538811	chr7:30549595-31405593	Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1016256	chr7:30649212-31163056	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1023120	chr7:30655070-31185096	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2761316	chr7:30655082-31166676	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised 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 target site	18 gene(s)	inside rSNPs	diseases
5	nsv527038	chr7:30657467-31161945	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv916877	chr7:30661135-31154731	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1017168	chr7:30663213-31166676	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv1017808	chr7:30671936-31150473	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv606523	chr7:31074214-31122542	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1023274	chr7:31096936-31126310	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:31101000-31137600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr7:31102000-31126000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:31102000-31134600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:31102400-31131800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:31112400-31124000	Weak transcription	Brain Anterior Caudate	brain
6	chr7:31113400-31131800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:31114600-31124800	Weak transcription	Brain Angular Gyrus	brain
8	chr7:31117400-31162000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:31117600-31130200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:31117600-31132200	Weak transcription	Fetal Brain Male	brain
11	chr7:31118000-31124000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:31119600-31122800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:31119600-31124200	Weak transcription	Brain Substantia Nigra	brain
14	chr7:31120200-31127400	Strong transcription	Fetal Brain Female	brain
15	chr7:31121000-31123000	Enhancers	HUVEC	blood vessel
16	chr7:31121400-31123400	Enhancers	Fetal Muscle Trunk	muscle
17	chr7:31121600-31123000	Enhancers	Left Ventricle	heart
18	chr7:31121600-31123400	Enhancers	Fetal Kidney	kidney
19	chr7:31121600-31123600	Enhancers	Fetal Muscle Leg	muscle
20	chr7:31121800-31127800	Strong transcription	Brain Germinal Matrix	brain
21	chr7:31122200-31122600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:31122200-31122800	Enhancers	Adipose Nuclei	Adipose
23	chr7:31122200-31122800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr7:31122200-31123000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:31122200-31123000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr7:31122200-31123000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr7:31122200-31123000	Enhancers	Lung	lung
28	chr7:31122200-31123000	Enhancers	Right Atrium	heart
29	chr7:31122200-31123400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:31122200-31123600	Enhancers	Spleen	Spleen
31	chr7:31122200-31124000	Genic enhancers	Fetal Stomach	stomach
32	chr7:31122200-31132600	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:31122400-31122600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
34	chr7:31122400-31122800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
35	chr7:31122400-31125200	Weak transcription	Brain Cingulate Gyrus	brain

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