Variant report

Variant	rs2686827
Chromosome Location	chr7:47980967-47980968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:47980359..47983354-chr7:48017215..48020655,3	K562	blood:
2	chr7:47977182..47979989-chr7:47980924..47982675,2	MCF-7	breast:
3	chr7:47969215..47970868-chr7:47978587..47981152,2	K562	blood:
4	chr7:47978394..47981153-chr7:48011977..48014017,2	K562	blood:
5	chr7:47976259..47978373-chr7:47980389..47982927,2	K562	blood:

Variant related genes	Relation type
ENSG00000136273	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12702401	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1879833	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1879834	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2686816	0.85[ASN][1000 genomes]
rs2686817	0.92[ASN][1000 genomes]
rs2686820	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2686821	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2686823	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2686825	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2686830	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2686831	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2686832	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2686833	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2708853	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2708873	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2708878	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2708880	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2708881	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2708894	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2708895	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2708897	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2708898	0.81[AMR][1000 genomes]
rs2708910	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2708911	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2708913	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34016848	0.81[AMR][1000 genomes]
rs57995674	0.84[ASN][1000 genomes]
rs60107343	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs885337	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs939904	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs939905	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	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
4	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2686827	UPP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47934000-48001800	Weak transcription	Psoas Muscle	Psoas
2	chr7:47967600-47993400	Weak transcription	Brain Anterior Caudate	brain
3	chr7:47975800-47982400	Enhancers	Fetal Heart	heart
4	chr7:47976000-47986000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:47977400-47981800	Enhancers	Right Ventricle	heart
6	chr7:47977400-48000600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:47978400-47983600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:47978400-47993800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:47978400-47994000	Weak transcription	Fetal Thymus	thymus
10	chr7:47978600-47982000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:47978600-47992600	Weak transcription	Primary B cells from cord blood	blood
12	chr7:47978800-47981200	Enhancers	Duodenum Mucosa	Duodenum
13	chr7:47978800-47981400	Enhancers	Spleen	Spleen
14	chr7:47978800-47983600	Enhancers	NHLF	lung
15	chr7:47979000-47981000	Enhancers	Fetal Intestine Small	intestine
16	chr7:47979000-47981800	Enhancers	Right Atrium	heart
17	chr7:47979000-47982400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr7:47979200-47981000	Enhancers	Fetal Intestine Large	intestine
19	chr7:47979200-47981200	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr7:47979200-47981800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr7:47979200-47982000	Enhancers	Left Ventricle	heart
22	chr7:47979400-47981200	Enhancers	Lung	lung
23	chr7:47979400-47981400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:47979400-47981800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr7:47979400-47982400	Enhancers	HSMMtube	muscle
26	chr7:47979400-47983800	Enhancers	NHDF-Ad	bronchial
27	chr7:47979600-47981400	Enhancers	Adipose Nuclei	Adipose
28	chr7:47979600-47982000	Enhancers	Osteobl	bone
29	chr7:47979600-47984200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:47979600-47986000	Enhancers	HUVEC	blood vessel
31	chr7:47979800-47981200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr7:47979800-47981200	Enhancers	Stomach Mucosa	stomach
33	chr7:47979800-47981800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr7:47979800-47981800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:47979800-47982000	Enhancers	Placenta	Placenta
36	chr7:47979800-47982400	Enhancers	Fetal Muscle Leg	muscle
37	chr7:47980000-47981400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:47980000-47981800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:47980000-47982000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr7:47980000-47982000	Enhancers	NH-A	brain
41	chr7:47980200-47981400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:47980200-47981800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr7:47980200-47981800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr7:47980200-47982000	Enhancers	H1 Cell Line	embryonic stem cell
45	chr7:47980200-47982000	Enhancers	HMEC	breast
46	chr7:47980200-47982400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:47980400-47981000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:47980400-47981000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr7:47980400-47981200	Enhancers	Aorta	Aorta
50	chr7:47980400-47981200	Enhancers	Fetal Muscle Trunk	muscle

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