Variant report

Variant	rs923957
Chromosome Location	chr5:36926756-36926757
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:36919106..36922235-chr5:36923697..36927353,5	K562	blood:
2	chr5:36926669..36929078-chr5:36937999..36941125,3	MCF-7	breast:
3	chr5:36920129..36922816-chr5:36925625..36927920,2	MCF-7	breast:
4	chr5:36875375..36878112-chr5:36925143..36928477,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164190	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs13156908	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13162626	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13163996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13164726	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13165105	0.86[EUR][1000 genomes]
rs13176635	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13181330	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13181860	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13186745	0.88[EUR][1000 genomes]
rs13187028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1353256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs165962	0.85[CEU][hapmap]
rs16903418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17312211	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs187391	0.85[CEU][hapmap];0.84[TSI][hapmap]
rs188383	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213513	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs245672	0.91[CEU][hapmap]
rs289216	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs293753	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs293754	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs293775	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298973	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34079524	0.88[EUR][1000 genomes]
rs34218486	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34272373	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34697946	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34807025	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34911537	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35127161	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35167018	0.94[EUR][1000 genomes]
rs35357341	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35394109	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35809470	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36035695	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36650	0.85[CEU][hapmap];0.87[TSI][hapmap]
rs36676	0.85[CEU][hapmap];0.84[TSI][hapmap]
rs3776594	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3899482	0.86[EUR][1000 genomes]
rs58123624	0.95[EUR][1000 genomes]
rs62654860	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6868809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs6894622	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71617772	0.94[EUR][1000 genomes]
rs71617774	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73093888	0.88[EUR][1000 genomes]
rs7700441	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7704442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7716192	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv830264	chr5:36887002-36941494	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
8	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs923957	TARS	cis	cerebellum	SCAN
rs923957	C5orf42	cis	cerebellum	SCAN
rs923957	IL7R	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36895800-36928600	Weak transcription	HSMM	muscle
2	chr5:36905200-36927800	Weak transcription	Psoas Muscle	Psoas
3	chr5:36907400-36928600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:36907400-36938200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:36910200-36928000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr5:36911200-36928600	Weak transcription	A549	lung
7	chr5:36911600-36928600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:36913800-36931400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr5:36919600-36928000	Weak transcription	Ovary	ovary
10	chr5:36919600-36928000	Weak transcription	Small Intestine	intestine
11	chr5:36919600-36931400	Weak transcription	Left Ventricle	heart
12	chr5:36919600-36938200	Weak transcription	Pancreas	Pancrea
13	chr5:36919800-36953000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr5:36919800-36961600	Weak transcription	K562	blood
15	chr5:36920000-36928200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:36920000-36928600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr5:36920400-36951400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr5:36921600-36929200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr5:36921600-36931600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:36923400-36931400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:36923600-36943600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:36924200-36927600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:36924600-36943600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:36924800-36931000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:36924800-36933000	Weak transcription	Aorta	Aorta
26	chr5:36924800-36939000	Weak transcription	Fetal Thymus	thymus
27	chr5:36924800-36955200	Weak transcription	Dnd41	blood
28	chr5:36925000-36929000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr5:36925200-36929200	Weak transcription	Fetal Heart	heart
30	chr5:36925400-36933800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr5:36925600-36935200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr5:36926000-36926800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr5:36926000-36926800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:36926000-36936800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr5:36926400-36928000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:36926600-36926800	Enhancers	Colon Smooth Muscle	Colon
37	chr5:36926600-36927600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr5:36926600-36927600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr5:36926600-36927800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:36926600-36928200	Weak transcription	Hela-S3	cervix
41	chr5:36926600-36928800	Weak transcription	Primary T cells from cord blood	blood
42	chr5:36926600-36931600	Weak transcription	GM12878-XiMat	blood
43	chr5:36926600-36939400	Weak transcription	Fetal Intestine Small	intestine

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