Variant report

Variant	rs2272247
Chromosome Location	chr7:16834361-16834362
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16834118..16835745-chr7:16839306..16840832,2	MCF-7	breast:
2	chr7:16829911..16832805-chr7:16833008..16837157,5	MCF-7	breast:
3	chr7:16832562..16837080-chr7:16918023..16922699,4	MCF-7	breast:
4	chr7:16816860..16820045-chr7:16832794..16835975,4	MCF-7	breast:
5	chr7:16832553..16834809-chr7:16849103..16850683,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106541	Chromatin interaction
ENSG00000173467	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10215783	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12672569	0.90[ASN][1000 genomes]
rs17136588	0.86[CHD][hapmap];0.90[JPT][hapmap]
rs28475089	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28945083	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807498	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs73073521	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73073529	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73073541	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv887761	chr7:16834361-17732490	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv887762	chr7:16834361-17746628	Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription 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	34 gene(s)	inside rSNPs	diseases
5	nsv887763	chr7:16834361-17750811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2272247	ACVRL1	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16814000-16834600	Weak transcription	Fetal Brain Male	brain
2	chr7:16814400-16843800	Weak transcription	Small Intestine	intestine
3	chr7:16815000-16838000	Weak transcription	K562	blood
4	chr7:16816800-16835000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:16819800-16838000	Weak transcription	Placenta	Placenta
6	chr7:16820200-16835400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:16823600-16835400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:16823600-16843600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:16825800-16834400	Weak transcription	Fetal Brain Female	brain
10	chr7:16825800-16834600	Weak transcription	Fetal Stomach	stomach
11	chr7:16825800-16836600	Weak transcription	Left Ventricle	heart
12	chr7:16827400-16837000	Weak transcription	Primary B cells from cord blood	blood
13	chr7:16827600-16835400	Weak transcription	Stomach Mucosa	stomach
14	chr7:16828000-16834400	Weak transcription	Fetal Intestine Small	intestine
15	chr7:16830800-16834400	Weak transcription	HSMMtube	muscle
16	chr7:16831800-16839200	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr7:16832000-16835600	Strong transcription	Fetal Intestine Large	intestine
18	chr7:16832000-16839600	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr7:16832400-16838200	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:16832400-16840000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr7:16833200-16834800	Strong transcription	Colonic Mucosa	Colon
22	chr7:16833600-16839600	Strong transcription	A549	lung
23	chr7:16833800-16835400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:16834000-16842400	Weak transcription	Gastric	stomach
25	chr7:16834200-16835000	Enhancers	Fetal Muscle Leg	muscle
26	chr7:16834200-16839800	Strong transcription	Duodenum Mucosa	Duodenum

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