Variant report

Variant	rs4676736
Chromosome Location	chr3:121320486-121320487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11715640	0.81[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap]
rs11719547	0.81[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap]
rs11719653	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs12491882	0.81[CHB][hapmap];0.82[CHD][hapmap];0.80[ASN][1000 genomes]
rs1464100	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs1464101	0.81[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.81[ASN][1000 genomes]
rs1464102	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3845864	0.89[YRI][hapmap];0.83[AMR][1000 genomes]
rs4402866	0.93[YRI][hapmap];0.83[AMR][1000 genomes]
rs7631876	0.81[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap]
rs898686	0.81[CHB][hapmap]
rs9849849	0.81[CHB][hapmap]

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	nsv998555	chr3:120700604-121348015	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv591400	chr3:121070299-121339354	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' 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
7	nsv877381	chr3:121192350-121343500	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1007522	chr3:121200563-121374051	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv999349	chr3:121253990-121360206	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv2757006	chr3:121264886-121323465	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	esv2759172	chr3:121264886-121323465	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv998740	chr3:121289499-121390271	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv877382	chr3:121300728-121324643	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv965204	chr3:121305043-121322455	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4676736	ALDH1L1	cis	parietal	SCAN
rs4676736	PTPLB	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121317800-121324600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:121317800-121328400	Weak transcription	Right Atrium	heart
3	chr3:121319200-121321000	Enhancers	Psoas Muscle	Psoas
4	chr3:121319200-121321200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr3:121319800-121320800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr3:121319800-121321000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:121319800-121321200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr3:121320000-121320600	Enhancers	Brain Hippocampus Middle	brain
9	chr3:121320000-121320800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr3:121320000-121320800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:121320000-121321000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:121320000-121321000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:121320000-121321000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:121320000-121321000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr3:121320000-121321000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:121320000-121321000	Enhancers	HSMMtube	muscle
17	chr3:121320000-121321200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr3:121320000-121321200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:121320000-121321200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:121320000-121322000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr3:121320000-121328800	Weak transcription	Right Ventricle	heart
22	chr3:121320200-121320600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr3:121320200-121320600	Enhancers	Fetal Heart	heart
24	chr3:121320200-121320600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr3:121320400-121321000	Enhancers	Left Ventricle	heart
26	chr3:121320400-121321200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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