Variant report

Variant	rs7174549
Chromosome Location	chr15:92463303-92463304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:92461234..92463493-chr15:92469669..92471554,2	K562	blood:
2	chr15:92461295..92463798-chr15:92477370..92479994,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10775254	0.98[ASN][1000 genomes]
rs11074026	0.91[ASN][1000 genomes]
rs12591949	0.94[ASN][1000 genomes]
rs12594572	0.84[EUR][1000 genomes]
rs3924427	0.94[ASN][1000 genomes]
rs4077721	0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4244910	0.88[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs4294800	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4520813	0.81[ASN][1000 genomes]
rs6496868	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6496870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6496872	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6496873	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6496874	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6496875	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6496876	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6496877	0.81[JPT][hapmap]
rs6496878	0.81[JPT][hapmap]
rs7162293	0.98[ASN][1000 genomes]
rs7179389	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs7179958	0.81[JPT][hapmap]
rs7181500	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7182106	0.98[ASN][1000 genomes]
rs8035875	0.98[ASN][1000 genomes]
rs8041346	0.94[ASN][1000 genomes]
rs9920349	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048635	chr15:92073294-92557339	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv870094	chr15:92367354-92631647	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv534110	chr15:92397220-92592961	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7174549	SERPINB9	trans	parietal	SCAN
rs7174549	FAM174B	cis	cerebellum	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92446000-92464200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr15:92446800-92465000	Weak transcription	Fetal Stomach	stomach
3	chr15:92451800-92470200	Weak transcription	Small Intestine	intestine
4	chr15:92452000-92465200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr15:92453400-92466400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr15:92455800-92464200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr15:92457000-92465600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr15:92457200-92464800	Weak transcription	NHLF	lung
9	chr15:92457200-92467800	Weak transcription	Fetal Thymus	thymus
10	chr15:92457400-92470000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:92457600-92463600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr15:92457600-92469600	Weak transcription	Hela-S3	cervix
13	chr15:92458000-92464000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr15:92458400-92466400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr15:92459000-92463400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr15:92459000-92467600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr15:92459400-92464000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr15:92459400-92466200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr15:92459400-92467200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:92459400-92467800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr15:92459600-92466200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr15:92459600-92468800	Weak transcription	Colonic Mucosa	Colon
23	chr15:92459800-92465200	Weak transcription	Gastric	stomach
24	chr15:92460000-92463400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:92460000-92463800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr15:92460200-92464000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr15:92460200-92464600	Weak transcription	NHEK	skin
28	chr15:92460600-92472000	Enhancers	Right Atrium	heart
29	chr15:92460800-92464000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr15:92460800-92466800	Enhancers	Adipose Nuclei	Adipose
31	chr15:92461000-92464200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr15:92461000-92464600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr15:92461000-92464800	Enhancers	Right Ventricle	heart
34	chr15:92461000-92468000	Enhancers	Left Ventricle	heart
35	chr15:92461200-92463400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr15:92461200-92463400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr15:92461200-92463600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr15:92461400-92466800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr15:92461400-92469400	Weak transcription	Osteobl	bone
40	chr15:92461600-92464600	Enhancers	Brain Cingulate Gyrus	brain
41	chr15:92461600-92465400	Weak transcription	Spleen	Spleen
42	chr15:92461600-92468800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr15:92461800-92463400	Weak transcription	Esophagus	oesophagus
44	chr15:92461800-92463600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:92461800-92464000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr15:92461800-92464200	Weak transcription	Primary T cells from cord blood	blood
47	chr15:92461800-92464400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr15:92461800-92464800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr15:92462000-92463800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr15:92462000-92465600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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