Variant report

Variant	rs4968304
Chromosome Location	chr17:45140601-45140602
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	chr17:45138815..45142587-chr17:45143506..45146312,3	K562	blood:
2	chr17:45137333..45141674-chr17:45143017..45146181,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000262879	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10514915	0.92[ASN][1000 genomes]
rs1052586	0.80[CEU][hapmap]
rs11079745	0.82[CEU][hapmap]
rs11079748	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11079750	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11079752	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11649887	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11653589	0.85[CEU][hapmap];0.81[JPT][hapmap];0.92[YRI][hapmap]
rs11654517	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11658350	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11869840	0.84[CEU][hapmap]
rs11871052	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11871364	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12603447	0.84[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12939753	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12942936	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12949929	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12950276	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12950699	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1634260	0.92[ASN][1000 genomes]
rs197926	0.80[CEU][hapmap]
rs2007723	0.90[ASN][1000 genomes]
rs2316331	0.91[ASN][1000 genomes]
rs2317376	0.92[ASN][1000 genomes]
rs2873131	0.92[ASN][1000 genomes]
rs34038545	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34314554	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34710835	0.80[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs35721448	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3851786	0.81[CEU][hapmap]
rs3851792	0.87[CEU][hapmap]
rs4074247	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4074249	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4968253	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4968286	0.84[CEU][hapmap]
rs4968301	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56362502	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6504622	0.84[CEU][hapmap]
rs7207418	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7214785	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7215573	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7215903	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7215907	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7219544	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7219899	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7220777	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7222781	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs736604	0.80[CEU][hapmap]
rs8068715	0.85[CEU][hapmap];0.81[JPT][hapmap];0.92[YRI][hapmap]
rs8077021	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9889451	0.92[ASN][1000 genomes]
rs9889762	0.84[CEU][hapmap]
rs9899078	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv833466	chr17:45020360-45204537	Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv522797	chr17:45084279-45183152	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv962331	chr17:45088443-45141744	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	esv1843358	chr17:45090768-45141959	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	esv1851648	chr17:45091619-45146146	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
12	esv1846431	chr17:45092987-45145946	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
13	esv3332795	chr17:45116212-45209297	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers 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	13 gene(s)	inside rSNPs	diseases
14	esv3386521	chr17:45116232-45209267	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
15	esv21010	chr17:45125753-45177221	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv1059766	chr17:45130765-45203468	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	esv2760450	chr17:45130777-45225222	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription 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	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4968304	GOSR2	cis	normal skin	skin_eQTL
rs4968304	GOSR2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45121400-45142200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr17:45123800-45143600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr17:45125200-45143600	Weak transcription	HepG2	liver
4	chr17:45125400-45143800	Weak transcription	NHLF	lung
5	chr17:45128200-45143600	Weak transcription	HSMMtube	muscle
6	chr17:45128200-45143800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr17:45128800-45143600	Weak transcription	HUVEC	blood vessel
8	chr17:45128800-45144600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:45129400-45144200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:45129800-45144000	Weak transcription	Hela-S3	cervix
11	chr17:45130000-45144200	Weak transcription	Primary B cells from cord blood	blood
12	chr17:45130600-45143800	Weak transcription	NHEK	skin
13	chr17:45130800-45141600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr17:45131200-45143600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr17:45131200-45144000	Weak transcription	Brain Germinal Matrix	brain
16	chr17:45131400-45142000	Weak transcription	NHDF-Ad	bronchial
17	chr17:45131600-45143600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr17:45131800-45141600	Weak transcription	Aorta	Aorta
19	chr17:45131800-45141600	Weak transcription	A549	lung
20	chr17:45131800-45143600	Weak transcription	HSMM	muscle
21	chr17:45131800-45144600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr17:45132000-45141600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr17:45132000-45144600	Weak transcription	Spleen	Spleen
24	chr17:45132200-45141600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr17:45132200-45142800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr17:45132200-45143600	Weak transcription	Psoas Muscle	Psoas
27	chr17:45132600-45143600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr17:45132600-45143600	Weak transcription	Osteobl	bone
29	chr17:45132600-45143800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr17:45132600-45144000	Weak transcription	HMEC	breast
31	chr17:45132600-45144200	Weak transcription	Colonic Mucosa	Colon
32	chr17:45133600-45144200	Weak transcription	Fetal Brain Female	brain
33	chr17:45133800-45141600	Weak transcription	Brain Hippocampus Middle	brain
34	chr17:45133800-45143400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr17:45133800-45143600	Weak transcription	Primary T cells from cord blood	blood
36	chr17:45133800-45143600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr17:45133800-45143600	Weak transcription	Brain Substantia Nigra	brain
38	chr17:45133800-45144000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr17:45133800-45144000	Weak transcription	Colon Smooth Muscle	Colon
40	chr17:45133800-45144200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr17:45133800-45144200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr17:45133800-45144200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr17:45133800-45144200	Weak transcription	Esophagus	oesophagus
44	chr17:45133800-45144200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr17:45134000-45140800	Weak transcription	Adipose Nuclei	Adipose
46	chr17:45134000-45140800	Weak transcription	Lung	lung
47	chr17:45134000-45141200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr17:45134000-45141200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr17:45134000-45141400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr17:45134000-45141400	Weak transcription	Fetal Lung	lung

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