Variant report

Variant	rs1483177
Chromosome Location	chr8:63160490-63160491
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:63159936-63162628	H1-neurons	neurons:	n/a	n/a
2	USF2	chr8:63160377-63160689	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3AK20	chr8:63160479-63160804	PANC-1	pancreas:	n/a	n/a
4	CTCF	chr8:63160380-63160530	HPF	lung:	n/a	n/a
5	POLR2A	chr8:63159968-63162589	H1-neurons	neurons:	n/a	n/a
6	CTCF	chr8:63160440-63160590	HAc	cerebellar:	n/a	n/a
7	CTCF	chr8:63160419-63160868	A549	lung:	n/a	chr8:63160696-63160705
8	CTCF	chr8:63159957-63161230	A549	lung:	n/a	chr8:63160696-63160705
9	RAD21	chr8:63160479-63161132	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr8:63160456-63161286	A549	lung:	n/a	n/a
11	REST	chr8:63158767-63163709	H1-neurons	neurons:	n/a	chr8:63161625-63161643 chr8:63161765-63161775 chr8:63161624-63161644
12	TAF1	chr8:63160467-63161028	H1-neurons	neurons:	n/a	n/a
13	TAF1	chr8:63160486-63160841	H1-neurons	neurons:	n/a	n/a
14	SIN3A	chr8:63160257-63162590	H1-hESC	embryonic stem cell:	n/a	chr8:63160795-63160808 chr8:63160767-63160780 chr8:63161765-63161774 chr8:63161710-63161723 chr8:63160802-63160811
15	MAX	chr8:63160374-63162597	A549	lung:	n/a	chr8:63161954-63161961 chr8:63161952-63161961
16	RAD21	chr8:63160435-63160947	A549	lung:	n/a	n/a
17	JUND	chr8:63160362-63160504	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr8:63159973-63161143	H1-hESC	embryonic stem cell:	n/a	chr8:63160262-63160271

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63157703..63161119-chr8:63165423..63168636,3	K562	blood:

Variant related genes	Relation type
NKAIN3	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10090048	0.86[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs10090129	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10094502	0.99[EUR][1000 genomes]
rs10095168	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10099748	0.91[EUR][1000 genomes]
rs10101551	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10448028	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1154592	0.92[EUR][1000 genomes]
rs11778470	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12548234	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12549042	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12679323	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12681000	0.81[EUR][1000 genomes]
rs13249875	0.81[EUR][1000 genomes]
rs13250200	0.82[EUR][1000 genomes]
rs13252919	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13255752	0.92[EUR][1000 genomes]
rs13261910	0.88[EUR][1000 genomes]
rs13262465	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13264993	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13268451	0.94[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs13271280	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13281158	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1351702	0.99[EUR][1000 genomes]
rs1384675	0.92[EUR][1000 genomes]
rs1384683	0.99[EUR][1000 genomes]
rs1384684	0.86[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs1483165	0.93[EUR][1000 genomes]
rs1483173	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1552205	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2272014	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2272015	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2351652	0.90[EUR][1000 genomes]
rs2351653	0.90[EUR][1000 genomes]
rs2882742	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4262319	0.99[EUR][1000 genomes]
rs4637821	0.91[EUR][1000 genomes]
rs4738948	0.99[EUR][1000 genomes]
rs5020321	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983788	0.99[EUR][1000 genomes]
rs7017869	0.93[EUR][1000 genomes]
rs7017975	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7827326	0.81[EUR][1000 genomes]
rs7834815	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs900491	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs900492	0.93[EUR][1000 genomes]
rs9298062	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643536	0.93[EUR][1000 genomes]
rs9987255	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes]

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	nsv1016883	chr8:63110741-63171354	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1019143	chr8:63142202-63390820	Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2757277	chr8:63156123-63260182	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv2759621	chr8:63156123-63260182	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3339374	chr8:63160423-63162971	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63155400-63160600	Weak transcription	Pancreas	Pancrea
2	chr8:63159200-63163800	Active TSS	Fetal Brain Female	brain
3	chr8:63159600-63161600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
4	chr8:63159600-63162800	Active TSS	Brain Anterior Caudate	brain
5	chr8:63159800-63161600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr8:63159800-63163000	Active TSS	Fetal Brain Male	brain
7	chr8:63160000-63160600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr8:63160000-63160600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr8:63160000-63160600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
10	chr8:63160000-63161600	Active TSS	Stomach Smooth Muscle	stomach
11	chr8:63160000-63162000	Active TSS	Ovary	ovary
12	chr8:63160000-63162000	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr8:63160000-63162200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:63160000-63162400	Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr8:63160000-63162400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:63160000-63162400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
17	chr8:63160200-63160600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:63160200-63160600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
19	chr8:63160200-63160800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:63160200-63160800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:63160200-63160800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:63160200-63161600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
23	chr8:63160200-63161800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr8:63160200-63161800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:63160200-63161800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
26	chr8:63160200-63162000	Active TSS	Muscle Satellite Cultured Cells	--
27	chr8:63160200-63162000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:63160200-63162000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
29	chr8:63160200-63162000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
30	chr8:63160200-63162200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr8:63160200-63162200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr8:63160200-63162200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:63160200-63162200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:63160200-63162200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
35	chr8:63160200-63162400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr8:63160200-63162400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:63160200-63162400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:63160200-63162400	Active TSS	Brain Angular Gyrus	brain
39	chr8:63160200-63162400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
40	chr8:63160200-63162400	Active TSS	Rectal Smooth Muscle	rectum
41	chr8:63160200-63162800	Active TSS	Fetal Kidney	kidney
42	chr8:63160400-63160600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:63160400-63160600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr8:63160400-63160600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:63160400-63160600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
46	chr8:63160400-63160600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr8:63160400-63160600	Bivalent Enhancer	Lung	lung
48	chr8:63160400-63160600	Active TSS	Psoas Muscle	Psoas
49	chr8:63160400-63160600	Flanking Bivalent TSS/Enh	HSMM	muscle
50	chr8:63160400-63160600	Flanking Bivalent TSS/Enh	Osteobl	bone

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