Variant report

Variant	rs11078918
Chromosome Location	chr17:37761185-37761186
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37759375..37763031-chr17:37763265..37765961,4	K562	blood:
2	chr17:37753002..37755741-chr17:37759105..37761390,2	K562	blood:
3	chr17:37760982..37763537-chr17:37878611..37880800,2	K562	blood:
4	chr17:37752759..37755741-chr17:37758554..37761390,2	K562	blood:
5	chr17:37756158..37758402-chr17:37760489..37762828,2	K562	blood:
6	chr17:37759878..37762418-chr17:37771643..37773208,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171532	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11078916	0.90[ASN][1000 genomes]
rs11654954	0.90[ASN][1000 genomes]
rs12453198	0.89[ASN][1000 genomes]
rs12453217	0.85[ASN][1000 genomes]
rs12951665	0.84[ASN][1000 genomes]
rs4795386	0.90[ASN][1000 genomes]
rs9903269	0.89[ASN][1000 genomes]
rs9909875	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
3	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
5	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
7	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv521294	chr17:37694709-37804858	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv908205	chr17:37709422-37830900	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
13	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
14	nsv908208	chr17:37749259-37781849	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv908209	chr17:37749259-37790340	Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11078918	CRKRS	Cis_1M	lymphoblastoid	RTeQTL
rs11078918	ORMDL3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37756200-37761800	Weak transcription	Right Atrium	heart
2	chr17:37757400-37761600	Weak transcription	Pancreas	Pancrea
3	chr17:37758400-37761600	Weak transcription	Gastric	stomach
4	chr17:37759600-37761600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
5	chr17:37759600-37762400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr17:37759600-37763600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr17:37759800-37761400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
8	chr17:37759800-37761400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
9	chr17:37759800-37761800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr17:37759800-37763800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
11	chr17:37759800-37764600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr17:37760000-37761400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
13	chr17:37760000-37761600	Bivalent Enhancer	Brain Germinal Matrix	brain
14	chr17:37760000-37762000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
15	chr17:37760000-37762400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
16	chr17:37760000-37764000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
17	chr17:37760000-37764000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
18	chr17:37760000-37764800	Bivalent/Poised TSS	Fetal Brain Female	brain
19	chr17:37760200-37761200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr17:37760200-37761800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr17:37760200-37762400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr17:37760200-37762400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr17:37760200-37763000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
24	chr17:37760200-37764000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
25	chr17:37760200-37764000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
26	chr17:37760200-37765000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr17:37760400-37761200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr17:37760400-37762000	Bivalent Enhancer	Fetal Intestine Large	intestine
29	chr17:37760400-37762200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr17:37760400-37762400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:37760400-37765000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr17:37760600-37761200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr17:37760600-37761200	Bivalent Enhancer	Fetal Heart	heart
34	chr17:37760600-37761400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr17:37760600-37762400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr17:37760600-37762800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr17:37760600-37763000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr17:37760800-37761200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr17:37760800-37761400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
40	chr17:37760800-37761400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
41	chr17:37760800-37761600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr17:37761000-37761200	Bivalent/Poised TSS	Fetal Brain Male	brain
43	chr17:37761000-37761200	Bivalent Enhancer	NHEK	skin
44	chr17:37761000-37761400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr17:37761000-37761400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr17:37761000-37761400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr17:37761000-37761400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:37761000-37761400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
49	chr17:37761000-37761600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
50	chr17:37761000-37761800	Bivalent Enhancer	Primary B cells from cord blood	blood

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