Variant report

Variant	rs35724800
Chromosome Location	chr17:28607766-28607767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:28606837..28609559-chr17:28617376..28620536,3	K562	blood:

Variant related genes	Relation type
ENSG00000108578	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1050565	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11656408	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11870192	0.85[AMR][1000 genomes]
rs12938714	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12939390	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12941223	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12945042	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12947654	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12949747	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17767256	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2321706	0.84[ASN][1000 genomes]
rs3103303	0.86[ASN][1000 genomes]
rs3103306	0.84[ASN][1000 genomes]
rs3110060	0.81[ASN][1000 genomes]
rs3110061	0.81[ASN][1000 genomes]
rs3110452	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3110454	0.81[ASN][1000 genomes]
rs33980254	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34353378	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34622227	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36000555	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36048853	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3764449	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3794806	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7208052	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214248	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7223821	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73268099	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7342921	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8078900	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8080149	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs998087	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064975	chr17:28604187-28851905	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv543299	chr17:28604187-28851905	Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35724800	BLMH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:28566600-28618000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:28570400-28611600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:28571400-28618000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr17:28573800-28615400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr17:28574000-28616800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr17:28576200-28618000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr17:28579200-28616200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr17:28583000-28616600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr17:28583000-28616600	Strong transcription	Fetal Thymus	thymus
10	chr17:28583600-28616400	Strong transcription	Dnd41	blood
11	chr17:28586000-28617400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr17:28588200-28615000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr17:28589200-28616400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr17:28589600-28616600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr17:28590400-28612200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr17:28591200-28613400	Weak transcription	Pancreas	Pancrea
17	chr17:28591200-28617200	Weak transcription	Hela-S3	cervix
18	chr17:28591800-28616400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr17:28592400-28617200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr17:28592600-28615200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:28596600-28616800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr17:28598000-28616600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr17:28599600-28612000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr17:28599800-28616800	Strong transcription	A549	lung
25	chr17:28600200-28612400	Weak transcription	Fetal Brain Male	brain
26	chr17:28600200-28613400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr17:28600400-28617200	Weak transcription	Psoas Muscle	Psoas
28	chr17:28600600-28618000	Weak transcription	Gastric	stomach
29	chr17:28600800-28611400	Weak transcription	Colon Smooth Muscle	Colon
30	chr17:28601000-28612400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr17:28601000-28617200	Weak transcription	Small Intestine	intestine
32	chr17:28601200-28608200	Weak transcription	Lung	lung
33	chr17:28601200-28608200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr17:28601200-28608400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr17:28601200-28610400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr17:28601200-28612400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr17:28601200-28612400	Weak transcription	Esophagus	oesophagus
38	chr17:28601200-28613200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:28601400-28609600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr17:28601400-28609800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr17:28601400-28611400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr17:28601400-28611800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr17:28601400-28613000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr17:28601800-28609600	Weak transcription	HSMMtube	muscle
45	chr17:28601800-28611400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr17:28602000-28612800	Weak transcription	Right Ventricle	heart
47	chr17:28602200-28614000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr17:28602600-28607800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr17:28602600-28615000	Strong transcription	Adipose Nuclei	Adipose
50	chr17:28602600-28617200	Strong transcription	HUES64 Cell Line	embryonic stem cell

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