Variant report

Variant	rs34712849
Chromosome Location	chr7:47855237-47855238
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:47847893..47850671-chr7:47853007..47855421,2	K562	blood:

Variant related genes	Relation type
ENSG00000158683	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10429127	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12702392	0.82[EUR][1000 genomes]
rs12702393	0.82[EUR][1000 genomes]
rs13231277	0.82[EUR][1000 genomes]
rs13239205	0.81[EUR][1000 genomes]
rs13241400	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13247692	0.92[EUR][1000 genomes]
rs13247756	0.92[EUR][1000 genomes]
rs17131825	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131827	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17131855	0.92[EUR][1000 genomes]
rs17545682	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1851403	0.90[EUR][1000 genomes]
rs2123610	0.92[EUR][1000 genomes]
rs34069037	0.94[EUR][1000 genomes]
rs34703899	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35030912	0.81[EUR][1000 genomes]
rs35781192	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4391316	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66733202	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs66755489	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67572268	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6950328	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6970132	0.81[EUR][1000 genomes]
rs73103467	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780916	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7802098	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47846800-47858600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:47847600-47855800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:47847600-47858800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr7:47848400-47857600	Weak transcription	HSMMtube	muscle
5	chr7:47852400-47857800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:47852800-47855600	Weak transcription	Right Ventricle	heart
7	chr7:47852800-47856000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:47852800-47879000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:47853000-47855800	Enhancers	Adipose Nuclei	Adipose
10	chr7:47853000-47858600	Weak transcription	Placenta	Placenta
11	chr7:47853400-47858800	Weak transcription	Brain Substantia Nigra	brain
12	chr7:47853400-47859800	Enhancers	A549	lung
13	chr7:47853600-47858600	Weak transcription	Fetal Intestine Large	intestine
14	chr7:47853800-47858800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:47854000-47858600	Weak transcription	Fetal Intestine Small	intestine
16	chr7:47854200-47855600	Weak transcription	Spleen	Spleen
17	chr7:47854600-47855400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:47854800-47856000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:47854800-47858600	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:47855000-47856400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:47855000-47856600	Enhancers	HepG2	liver
22	chr7:47855000-47858600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:47855000-47858600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:47855000-47869600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:47855000-47880200	Weak transcription	Lung	lung
26	chr7:47855200-47855400	Enhancers	Brain Cingulate Gyrus	brain
27	chr7:47855200-47855600	Weak transcription	Left Ventricle	heart
28	chr7:47855200-47856200	Enhancers	Aorta	Aorta
29	chr7:47855200-47858600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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