Variant report

Variant	rs640284
Chromosome Location	chr10:27535600-27535601
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:27535472-27535947	GM12878	blood:	n/a	n/a
2	FOSL2	chr10:27535508-27535897	HepG2	liver:	n/a	n/a
3	POLR2A	chr10:27535510-27535888	H1-hESC	embryonic stem cell:	n/a	n/a
4	POU2F2	chr10:27535483-27535957	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:27535375-27535893	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr10:27535572-27535917	Hela-S3	cervix:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27499802..27501903-chr10:27533601..27536137,2	MCF-7	breast:
2	chr10:27529615..27533136-chr10:27533477..27538101,8	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACBD5-1	chr10:27534782-27541235	NR_003525

No data

Variant related genes	Relation type
ACBD5	TF binding region
ENSG00000107897	Chromatin interaction
ENSG00000262412	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1144508	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1144509	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1148169	0.89[ASN][1000 genomes]
rs1262128	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12763511	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12772875	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1618826	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17531310	0.85[ASN][1000 genomes]
rs1753385	0.89[ASN][1000 genomes]
rs1753387	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1753394	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1775348	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1775352	0.81[EUR][1000 genomes]
rs1775354	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1780090	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1780093	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1831186	0.90[ASN][1000 genomes]
rs1831187	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1831188	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1974364	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2026015	0.81[EUR][1000 genomes]
rs2104670	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2104671	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2368218	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2368221	0.90[ASN][1000 genomes]
rs2483499	0.86[ASN][1000 genomes]
rs2488368	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2488369	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2489374	0.84[ASN][1000 genomes]
rs2770200	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2770201	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2780665	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2780666	0.82[EUR][1000 genomes]
rs2780668	0.82[EUR][1000 genomes]
rs2780669	0.90[ASN][1000 genomes]
rs2780670	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2780671	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2780673	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2780677	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2797077	0.84[EUR][1000 genomes]
rs2797079	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2797080	0.90[ASN][1000 genomes]
rs2800391	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2800393	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2800394	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2800395	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2800397	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2800398	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2800399	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2800401	0.81[ASN][1000 genomes]
rs2800402	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2800403	0.81[EUR][1000 genomes]
rs2800405	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2800407	0.90[ASN][1000 genomes]
rs35209475	0.86[ASN][1000 genomes]
rs4747595	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs480738	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs484172	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs501495	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs502416	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs527192	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs534226	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs559839	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs576161	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs590142	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs604705	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs618050	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs623380	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs624106	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs630317	0.90[ASN][1000 genomes]
rs642428	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs642430	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6482604	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs693965	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7078662	0.81[EUR][1000 genomes]
rs7085905	0.82[EUR][1000 genomes]
rs7477200	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs788199	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs788201	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs788202	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs788203	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs788205	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs788207	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs788212	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs788215	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs788216	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs788228	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs788230	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs788232	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7896532	0.87[EUR][1000 genomes]
rs7902034	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7914155	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7917207	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs944909	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][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	esv2422253	chr10:27431366-27575370	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3337781	chr10:27472216-27666703	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv947786	chr10:27535141-27541912	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27532600-27536400	Weak transcription	Fetal Muscle Leg	muscle
2	chr10:27532600-27536400	Weak transcription	Right Atrium	heart
3	chr10:27532600-27540400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:27532600-27541200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:27532600-27541200	Weak transcription	Esophagus	oesophagus
6	chr10:27532600-27541200	Weak transcription	Pancreas	Pancrea
7	chr10:27532600-27541200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr10:27532800-27535600	Weak transcription	Fetal Intestine Small	intestine
9	chr10:27532800-27536400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr10:27532800-27536400	Weak transcription	Psoas Muscle	Psoas
11	chr10:27532800-27536600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr10:27532800-27537000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr10:27532800-27541000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr10:27532800-27541000	Weak transcription	Adipose Nuclei	Adipose
15	chr10:27532800-27541200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr10:27532800-27541200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr10:27532800-27541200	Weak transcription	Right Ventricle	heart
18	chr10:27533000-27536400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr10:27533000-27541000	Weak transcription	Hela-S3	cervix
20	chr10:27533000-27541200	Weak transcription	Primary T cells from cord blood	blood
21	chr10:27533000-27541200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr10:27533000-27541200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:27533000-27541200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr10:27533000-27541200	Weak transcription	Brain Substantia Nigra	brain
25	chr10:27533000-27541200	Weak transcription	Fetal Kidney	kidney
26	chr10:27533200-27536400	Weak transcription	Fetal Heart	heart
27	chr10:27535200-27535800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr10:27535200-27536800	Enhancers	HepG2	liver
29	chr10:27535400-27536400	Enhancers	Fetal Intestine Large	intestine
30	chr10:27535400-27537200	Enhancers	Left Ventricle	heart
31	chr10:27535600-27535800	Enhancers	Fetal Intestine Small	intestine

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