Variant report

Variant	rs7193257
Chromosome Location	chr16:75679887-75679888
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75466586..75469509-chr16:75679295..75683235,4	K562	blood:
2	chr16:75495991..75500241-chr16:75679416..75683319,6	MCF-7	breast:
3	chr16:75656896..75658895-chr16:75677338..75680056,2	K562	blood:
4	chr16:75677843..75679921-chr16:75690407..75692993,2	K562	blood:
5	chr16:75653702..75657026-chr16:75677562..75680173,3	MCF-7	breast:
6	chr16:75653410..75664044-chr16:75674901..75683254,27	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261717	Chromatin interaction
ENSG00000065427	Chromatin interaction
ENSG00000166822	Chromatin interaction
ENSG00000153774	Chromatin interaction
ENSG00000065457	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10163345	0.85[EUR][1000 genomes]
rs1133766	0.82[EUR][1000 genomes]
rs11546854	0.96[EUR][1000 genomes]
rs11640406	0.82[EUR][1000 genomes]
rs11640743	0.82[EUR][1000 genomes]
rs11641108	0.82[EUR][1000 genomes]
rs11646086	0.82[EUR][1000 genomes]
rs11646574	0.82[EUR][1000 genomes]
rs11648206	0.82[EUR][1000 genomes]
rs11649504	0.82[EUR][1000 genomes]
rs11649505	0.82[EUR][1000 genomes]
rs11649571	0.82[EUR][1000 genomes]
rs11860980	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11862453	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11864677	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11866252	0.96[EUR][1000 genomes]
rs16941008	0.96[EUR][1000 genomes]
rs16942022	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16942809	0.87[EUR][1000 genomes]
rs16942870	0.87[EUR][1000 genomes]
rs1865492	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1991052	0.87[EUR][1000 genomes]
rs2233803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2233805	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2233810	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35135836	0.82[EUR][1000 genomes]
rs56892159	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58000098	0.96[EUR][1000 genomes]
rs58657577	0.96[EUR][1000 genomes]
rs58996069	0.96[EUR][1000 genomes]
rs59624897	0.96[EUR][1000 genomes]
rs59794444	0.96[EUR][1000 genomes]
rs60376290	1.00[EUR][1000 genomes]
rs60415088	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60545422	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60664312	0.96[EUR][1000 genomes]
rs61588474	0.96[EUR][1000 genomes]
rs62619985	0.96[EUR][1000 genomes]
rs6834	0.93[EUR][1000 genomes]
rs7186790	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7195089	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73613267	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73613272	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73615089	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8051771	0.96[EUR][1000 genomes]
rs9989360	0.98[EUR][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	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1065543	chr16:75631306-75800170	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7193257	KARS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75659200-75680000	Strong transcription	Fetal Stomach	stomach
2	chr16:75659200-75680000	Strong transcription	A549	lung
3	chr16:75659200-75680600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:75659400-75680000	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr16:75664200-75680200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:75669800-75680600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr16:75675000-75680200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:75675600-75680200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr16:75675600-75680200	Weak transcription	Colonic Mucosa	Colon
10	chr16:75675600-75680200	Weak transcription	Ovary	ovary
11	chr16:75675600-75680600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr16:75675600-75680600	Weak transcription	Aorta	Aorta
13	chr16:75675800-75680400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr16:75676000-75680200	Weak transcription	Esophagus	oesophagus
15	chr16:75676800-75680200	Weak transcription	Thymus	Thymus
16	chr16:75677200-75680200	Weak transcription	NHLF	lung
17	chr16:75677400-75680600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr16:75678000-75680600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr16:75678200-75680000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr16:75678200-75680000	Genic enhancers	K562	blood
21	chr16:75678200-75680400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr16:75678400-75680400	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr16:75678600-75680000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr16:75678600-75680200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr16:75678600-75680200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr16:75678800-75680000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr16:75678800-75680000	Weak transcription	Brain Substantia Nigra	brain
28	chr16:75678800-75680400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr16:75678800-75680400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr16:75678800-75680600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr16:75679000-75680600	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr16:75679000-75680600	Enhancers	Small Intestine	intestine
33	chr16:75679200-75680000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr16:75679200-75680200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr16:75679200-75680200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr16:75679200-75680200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr16:75679200-75680200	Transcr. at gene 5' and 3'	Dnd41	blood
38	chr16:75679200-75680400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr16:75679200-75680600	Enhancers	Left Ventricle	heart
40	chr16:75679400-75680000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr16:75679400-75680000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:75679400-75680200	Weak transcription	Brain Anterior Caudate	brain
43	chr16:75679400-75680200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr16:75679400-75680200	Weak transcription	Fetal Brain Female	brain
45	chr16:75679400-75680200	Weak transcription	Fetal Lung	lung
46	chr16:75679400-75680200	Weak transcription	HSMM	muscle
47	chr16:75679400-75680400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr16:75679400-75680400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr16:75679400-75680400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr16:75679400-75680400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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