Variant report

Variant	rs2275614
Chromosome Location	chr6:119110325-119110326
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119109578..119112343-chr6:119334552..119337073,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12192393	0.91[ASN][1000 genomes]
rs12525886	1.00[ASN][1000 genomes]
rs17695732	0.93[ASN][1000 genomes]
rs2145568	1.00[JPT][hapmap]
rs284921	1.00[JPT][hapmap]
rs65685	1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs6929592	1.00[CHB][hapmap]
rs6934262	1.00[CHB][hapmap]
rs706972	1.00[JPT][hapmap]
rs7746114	1.00[JPT][hapmap]
rs7766260	1.00[JPT][hapmap]
rs7773212	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794602	1.00[JPT][hapmap]
rs794609	1.00[JPT][hapmap]
rs794610	1.00[JPT][hapmap]
rs794613	1.00[JPT][hapmap]
rs794615	1.00[JPT][hapmap]
rs9374745	1.00[JPT][hapmap]
rs9374749	0.91[ASN][1000 genomes]
rs9374750	1.00[ASW][hapmap];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];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9374758	1.00[JPT][hapmap]
rs9385056	1.00[JPT][hapmap]
rs9401108	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
5	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv830788	chr6:119014021-119143652	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1023826	chr6:119026481-119221408	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv886568	chr6:119044453-119132164	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv886569	chr6:119055873-119132164	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2275614	ROS1	cis	parietal	SCAN
rs2275614	FAM184A	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119105400-119110400	Weak transcription	HSMMtube	muscle
2	chr6:119106200-119113400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:119106200-119113600	Weak transcription	Fetal Intestine Small	intestine
4	chr6:119106400-119110600	Weak transcription	Lung	lung
5	chr6:119106800-119110400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:119106800-119110600	Weak transcription	Brain Anterior Caudate	brain
7	chr6:119107000-119110400	Weak transcription	Fetal Brain Male	brain
8	chr6:119107800-119110600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:119107800-119111400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:119108000-119110600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr6:119108000-119110800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr6:119108200-119110800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr6:119108400-119110600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:119108600-119111000	Enhancers	Fetal Thymus	thymus
15	chr6:119108800-119136000	Weak transcription	Aorta	Aorta
16	chr6:119109000-119110400	Weak transcription	Brain Angular Gyrus	brain
17	chr6:119109200-119121600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:119109400-119110600	Weak transcription	Fetal Stomach	stomach
19	chr6:119109400-119121400	Weak transcription	Primary T cells from cord blood	blood
20	chr6:119109600-119110600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr6:119109600-119110600	Weak transcription	Brain Substantia Nigra	brain
22	chr6:119109800-119116800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr6:119109800-119117000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:119109800-119117000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr6:119109800-119121200	Weak transcription	Left Ventricle	heart
26	chr6:119110000-119110600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr6:119110200-119111000	Enhancers	Brain Cingulate Gyrus	brain
28	chr6:119110200-119111600	Enhancers	Brain Hippocampus Middle	brain
29	chr6:119110200-119121600	Weak transcription	Thymus	Thymus

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