Variant report

Variant	rs750677
Chromosome Location	chr8:131031801-131031802
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:131031752-131031802	HEK293	kidney:	embryo
2	chr8:131031752-131031802	HPAEpiC	pulmonary alveolar:	n/a
3	chr8:131031752-131031802	GM19239	blood:	n/a
4	chr8:131031752-131031802	NH-A	brain:	n/a
5	chr8:131031752-131031802	NB4	blood:	n/a
6	chr8:131031752-131031802	GM12891	blood:	n/a
7	chr8:131031752-131031802	MCF10A-Er-Src	breast:	n/a
8	chr8:131031752-131031802	AoSMC	blood vessel:	n/a
9	chr8:131031752-131031802	CMK	blood:	n/a
10	chr8:131031752-131031802	GM12892	blood:	n/a
11	chr8:131031752-131031802	HUVEC	blood vessel:	n/a
12	chr8:131031752-131031802	PrEC	prostate:	n/a
13	chr8:131031752-131031802	AG04449	skin:	fetal
14	chr8:131031752-131031802	ovcar-3	ovarian:	n/a
15	chr8:131031752-131031802	HAEpiC	amniotic membrane:	n/a
16	chr8:131031752-131031802	Hepatocyte	liver:	n/a
17	chr8:131031752-131031802	HMEC	breast:	n/a
18	chr8:131031752-131031802	ProgFib	skin:	n/a
19	chr8:131031752-131031802	NT2-D1	testis:	n/a
20	chr8:131031752-131031802	HCM	heart:	n/a
21	chr8:131031752-131031802	IMR90	lung:	fetal
22	chr8:131031752-131031802	HRPEpiC	eye:	n/a
23	chr8:131031752-131031802	SK-N-MC	brain:	n/a
24	chr8:131031752-131031802	GM06990	blood:	n/a
25	chr8:131031752-131031802	PANC-1	pancreas:	n/a
26	chr8:131031752-131031802	Caco-2	colon:	n/a
27	chr8:131031752-131031802	NHBE	bronchial:	n/a
28	chr8:131031752-131031802	H1-hESC	embryonic stem cell:	embryo
29	chr8:131031752-131031802	RPTEC	kidney:	n/a
30	chr8:131031752-131031802	HCF	heart:	n/a
31	chr8:131031752-131031802	A549	lung:	n/a
32	chr8:131031752-131031802	BJ	skin:	n/a
33	chr8:131031752-131031802	PFSK-1	brain:	n/a
34	chr8:131031752-131031802	BE2_C	brain:	n/a
35	chr8:131031752-131031802	K562	blood:	n/a
36	chr8:131031752-131031802	HEEpiC	esophagus:	n/a
37	chr8:131031752-131031802	HepG2	liver:	n/a
38	chr8:131031752-131031802	HL-60	blood:	n/a
39	chr8:131031752-131031802	HCPEpiC	choroid plexus:	n/a
40	chr8:131031752-131031802	AG09319	gingival:	n/a
41	chr8:131031752-131031802	SAEC	small airway:	n/a
42	chr8:131031752-131031802	U87	brain:	n/a
43	chr8:131031752-131031802	NHDF-neo	bronchial:	n/a
44	chr8:131031752-131031802	HCT-116	colon:	n/a
45	chr8:131031752-131031802	HIPEpiC	eye:	n/a
46	chr8:131031752-131031802	LNCaP	prostate:	n/a
47	chr8:131031752-131031802	T-47D	breast:	n/a
48	chr8:131031752-131031802	Jurkat	blood:	n/a
49	chr8:131031752-131031802	HRE	kidney:	n/a
50	chr8:131031752-131031802	GM12878	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:131031108..131033473-chr8:131036840..131039215,2	MCF-7	breast:
2	chr8:130949866..130952104-chr8:131031388..131034166,2	K562	blood:
3	chr8:131017010..131019589-chr8:131030192..131032616,2	K562	blood:
4	chr8:131028813..131030509-chr8:131031181..131032735,2	MCF-7	breast:
5	chr8:131027601..131029228-chr8:131030030..131032966,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAM49B	CpG island
ENSG00000153310	Chromatin interaction
ENSG00000253720	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10505546	0.84[ASN][1000 genomes]
rs10755933	0.84[ASN][1000 genomes]
rs10956511	0.81[JPT][hapmap]
rs1118887	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs11774690	0.82[JPT][hapmap]
rs11780495	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs12677881	0.84[ASN][1000 genomes]
rs13257060	0.84[ASN][1000 genomes]
rs13280733	0.82[ASN][1000 genomes]
rs1469288	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs16904190	0.83[JPT][hapmap]
rs16904191	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1902014	0.82[ASN][1000 genomes]
rs1902016	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs2005030	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2085065	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2085066	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2114196	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs2395974	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2395975	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395988	0.81[ASN][1000 genomes]
rs34443587	0.84[ASN][1000 genomes]
rs34596868	0.82[ASN][1000 genomes]
rs3935174	0.82[JPT][hapmap]
rs4733566	0.82[CHB][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4733768	0.81[JPT][hapmap]
rs4733775	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs4733776	0.81[JPT][hapmap]
rs62524598	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470790	0.84[ASN][1000 genomes]
rs6470791	0.84[ASN][1000 genomes]
rs6470805	0.80[JPT][hapmap]
rs7005307	0.84[ASN][1000 genomes]
rs7012705	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs73405532	0.81[ASN][1000 genomes]
rs7463674	0.84[ASN][1000 genomes]
rs7464578	0.81[ASN][1000 genomes]
rs747498	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs747499	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs747500	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7820954	0.84[ASN][1000 genomes]
rs7845312	0.84[ASN][1000 genomes]
rs874617	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs876575	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs881421	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs897051	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9720602	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv465809	chr8:131005345-131031827	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv612233	chr8:131005345-131031827	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131029200-131032200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:131029400-131032200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:131029400-131032200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:131029400-131032200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:131029400-131041200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:131029600-131032200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:131029600-131032400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:131029600-131032400	Weak transcription	HMEC	breast
9	chr8:131029600-131033800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:131029600-131036400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:131029600-131039000	Weak transcription	Brain Anterior Caudate	brain
12	chr8:131029600-131041000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:131029600-131041000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:131029800-131032200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:131029800-131032200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:131029800-131032200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:131029800-131032200	Weak transcription	K562	blood
18	chr8:131029800-131032200	Weak transcription	NHEK	skin
19	chr8:131029800-131032400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:131029800-131033600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:131029800-131033600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:131029800-131033800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr8:131029800-131034000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr8:131029800-131034000	Weak transcription	A549	lung
25	chr8:131029800-131034600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr8:131030000-131034000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:131030000-131034000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr8:131030200-131032400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr8:131030400-131034000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr8:131030600-131034000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:131031800-131032600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
32	chr8:131031800-131032800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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