Variant report

Variant	rs316835
Chromosome Location	chr1:242348602-242348603
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10449290	0.88[EUR][1000 genomes]
rs12088502	0.82[GIH][hapmap]
rs12749233	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs316822	0.81[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs316836	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv468672	chr1:242201247-242555949	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv470788	chr1:242201247-242555949	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv549462	chr1:242201247-242555949	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv528016	chr1:242223399-242451350	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv549463	chr1:242265419-242856854	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv998804	chr1:242281003-242491362	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv430391	chr1:242307104-243280885	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv817488	chr1:242330066-243121127	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv868888	chr1:242330066-243191101	Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv873375	chr1:242332289-242348602	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs316835	FH	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242327800-242351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:242342000-242351000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:242342600-242351200	Weak transcription	Aorta	Aorta
4	chr1:242345600-242359200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:242347400-242349200	Enhancers	Brain Cingulate Gyrus	brain
6	chr1:242347800-242349400	Enhancers	Brain Hippocampus Middle	brain
7	chr1:242348000-242348800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr1:242348000-242348800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:242348000-242348800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr1:242348000-242348800	Enhancers	Brain Substantia Nigra	brain
11	chr1:242348000-242349400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:242348200-242348800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:242348200-242348800	Enhancers	HSMMtube	muscle
14	chr1:242348200-242349000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:242348200-242349000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:242348400-242348800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:242348400-242348800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:242348400-242349200	Enhancers	Brain Germinal Matrix	brain
19	chr1:242348400-242351800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:242348600-242349000	Weak transcription	Brain Angular Gyrus	brain
21	chr1:242348600-242349400	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr1:242348600-242352800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:242348600-242358800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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