Variant report

Variant	rs16918878
Chromosome Location	chr9:102846630-102846631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:102833241..102834792-chr9:102845640..102848020,2	K562	blood:
2	chr9:102832276..102834231-chr9:102845616..102848202,2	MCF-7	breast:
3	chr9:102845337..102851064-chr9:102859939..102862983,5	MCF-7	breast:
4	chr9:102846170..102848209-chr9:102858756..102860662,2	K562	blood:
5	chr9:102832400..102834792-chr9:102845793..102848020,2	K562	blood:
6	chr9:102845199..102847988-chr9:102855038..102857684,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000023318	Chromatin interaction
ENSG00000119509	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10116142	0.94[JPT][hapmap]
rs10117828	0.88[JPT][hapmap]
rs10120103	0.88[JPT][hapmap]
rs10121601	0.88[JPT][hapmap]
rs10121880	0.88[JPT][hapmap]
rs10123261	0.88[JPT][hapmap]
rs10124366	0.89[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.81[MEX][hapmap];0.81[YRI][hapmap]
rs10217337	0.86[JPT][hapmap]
rs10217692	0.88[JPT][hapmap]
rs10512268	0.88[JPT][hapmap]
rs1055187	0.81[CHD][hapmap]
rs10760700	0.87[JPT][hapmap]
rs10760706	0.88[JPT][hapmap]
rs12684341	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16918892	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1830454	0.88[JPT][hapmap]
rs1881752	0.81[ASN][1000 genomes]
rs1997367	0.88[JPT][hapmap]
rs1997368	0.80[GIH][hapmap];0.88[JPT][hapmap]
rs2031035	0.82[JPT][hapmap]
rs2209081	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.81[YRI][hapmap];0.85[EUR][1000 genomes]
rs2416935	0.88[JPT][hapmap]
rs2416936	0.88[JPT][hapmap]
rs2416937	0.88[JPT][hapmap]
rs2416938	0.83[JPT][hapmap]
rs2416940	0.88[JPT][hapmap]
rs2787398	0.80[ASN][1000 genomes]
rs4282626	0.88[JPT][hapmap]
rs4452862	0.87[JPT][hapmap]
rs4585797	0.88[JPT][hapmap]
rs4742777	0.88[JPT][hapmap]
rs4742778	0.88[JPT][hapmap]
rs4743370	0.88[JPT][hapmap]
rs7020636	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap]
rs7027619	0.88[JPT][hapmap]
rs7038506	0.94[JPT][hapmap]
rs7039716	0.88[JPT][hapmap]
rs72731378	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9299335	0.88[JPT][hapmap]
rs9556	0.87[CHD][hapmap];0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1048674	chr9:102752236-103038259	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1052007	chr9:102766948-103033937	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16918878	MURC	cis	parietal	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102800000-102860200	Weak transcription	Esophagus	oesophagus
2	chr9:102822000-102849000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr9:102825800-102858200	Weak transcription	Fetal Intestine Small	intestine
4	chr9:102829200-102850600	Weak transcription	Aorta	Aorta
5	chr9:102829400-102848800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr9:102829400-102849200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr9:102829400-102849600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr9:102829400-102849800	Weak transcription	Stomach Mucosa	stomach
9	chr9:102836000-102859000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:102836800-102849000	Weak transcription	Fetal Lung	lung
11	chr9:102837000-102849800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr9:102837000-102859600	Weak transcription	Brain Anterior Caudate	brain
13	chr9:102837200-102860200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr9:102838800-102852200	Weak transcription	Adipose Nuclei	Adipose
15	chr9:102839600-102860000	Weak transcription	Fetal Stomach	stomach
16	chr9:102839800-102860200	Weak transcription	Right Atrium	heart
17	chr9:102840600-102855600	Weak transcription	Lung	lung
18	chr9:102842000-102850200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr9:102842200-102850600	Weak transcription	Left Ventricle	heart
20	chr9:102842200-102855600	Weak transcription	Gastric	stomach
21	chr9:102842400-102851600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr9:102842600-102851400	Weak transcription	Psoas Muscle	Psoas
23	chr9:102843200-102850200	Weak transcription	Spleen	Spleen
24	chr9:102843200-102851800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr9:102843600-102848000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr9:102844000-102851200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr9:102844000-102851400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr9:102844800-102847000	Flanking Active TSS	GM12878-XiMat	blood
29	chr9:102844800-102847800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr9:102844800-102850000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr9:102844800-102851600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr9:102845000-102850600	Weak transcription	Pancreas	Pancrea
33	chr9:102845200-102848600	Weak transcription	Hela-S3	cervix
34	chr9:102845400-102846800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr9:102845400-102847400	Enhancers	Fetal Brain Male	brain
36	chr9:102845400-102847800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr9:102845600-102846800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr9:102845600-102846800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr9:102845600-102847000	Enhancers	Primary hematopoietic stem cells	blood
40	chr9:102845600-102847400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr9:102845600-102847400	Enhancers	Small Intestine	intestine
42	chr9:102845600-102848600	Weak transcription	HUVEC	blood vessel
43	chr9:102845800-102846800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr9:102845800-102846800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr9:102845800-102846800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr9:102845800-102846800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr9:102845800-102847000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr9:102845800-102847200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr9:102845800-102847200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr9:102845800-102847600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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