Variant report

Variant	rs3136400
Chromosome Location	chr8:95451931-95451932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr8:95451851-95452351	K562	blood:	n/a	n/a
2	EP300	chr8:95451476-95452295	K562	blood:	n/a	n/a
3	EGR1	chr8:95451687-95452233	K562	blood:	n/a	n/a
4	TAL1	chr8:95451908-95452286	K562	blood:	n/a	n/a
5	CUX1	chr8:95451920-95452151	K562	blood:	n/a	n/a
6	TEAD4	chr8:95451884-95452294	K562	blood:	n/a	n/a
7	TEAD4	chr8:95451848-95452353	K562	blood:	n/a	n/a
8	ARID3A	chr8:95451921-95452167	K562	blood:	n/a	n/a
9	EGR1	chr8:95451677-95452241	K562	blood:	n/a	n/a
10	CEBPD	chr8:95451813-95452310	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95447931..95449885-chr8:95451720..95455035,3	K562	blood:
2	chr8:95449447..95452097-chr8:95455615..95457152,2	K562	blood:
3	chr8:95447931..95449655-chr8:95451874..95454373,2	K562	blood:

No data

Variant related genes	Relation type
FSBP	TF binding region
ENSG00000265817	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10956912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11778733	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11786007	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2244209	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2255130	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2263133	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2445698	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2445701	0.89[ASN][1000 genomes]
rs2445702	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2445713	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2445727	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs2448907	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2448915	0.89[ASN][1000 genomes]
rs2450248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450249	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450550	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450551	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2450552	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2450555	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2450560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450562	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2450563	0.94[ASN][1000 genomes]
rs2450564	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2450565	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2450566	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2450571	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450574	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2450576	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2450577	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2450579	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2470727	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470729	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470730	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470734	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470738	0.83[ASN][1000 genomes]
rs2470741	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470743	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470745	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470747	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515097	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515101	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2515102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515105	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515109	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515119	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2515120	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2515121	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515122	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515132	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515142	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515151	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2515152	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515158	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2515159	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515160	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515162	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515163	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515164	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515166	0.87[ASN][1000 genomes]
rs2515168	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28503419	0.98[ASN][1000 genomes]
rs3098702	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3098704	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3098727	0.96[EUR][1000 genomes]
rs3099402	0.96[EUR][1000 genomes]
rs3136407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136414	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56303696	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7007534	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs882521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer 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	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv891202	chr8:95445660-95456986	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95432400-95478600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:95442600-95465400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:95445600-95455000	Weak transcription	Dnd41	blood
4	chr8:95448800-95457200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:95449000-95452800	Weak transcription	Pancreas	Pancrea
6	chr8:95449000-95452800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:95449000-95455000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:95449400-95485200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:95449400-95486200	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:95449600-95452800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:95449600-95453000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:95449600-95453000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr8:95449600-95454000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:95449600-95455200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:95449800-95452400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:95449800-95452600	Enhancers	Primary T cells from cord blood	blood
17	chr8:95449800-95452600	Weak transcription	Thymus	Thymus
18	chr8:95449800-95452800	Weak transcription	Primary B cells from cord blood	blood
19	chr8:95449800-95452800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr8:95449800-95452800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:95449800-95452800	Weak transcription	Liver	Liver
22	chr8:95449800-95452800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:95449800-95453400	Weak transcription	Fetal Thymus	thymus
24	chr8:95449800-95454200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:95449800-95476200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:95449800-95479600	Weak transcription	NH-A	brain
27	chr8:95450000-95452000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:95450000-95452200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr8:95450000-95452600	Weak transcription	Fetal Kidney	kidney
30	chr8:95450000-95452600	Enhancers	A549	lung
31	chr8:95450000-95452800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:95450000-95452800	Weak transcription	Fetal Intestine Large	intestine
33	chr8:95450000-95454000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr8:95450000-95454000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:95450000-95455000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:95450000-95455400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:95450000-95458800	Weak transcription	Fetal Stomach	stomach
38	chr8:95450000-95468200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:95450000-95486000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr8:95450200-95452400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:95450200-95452600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:95450200-95452600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr8:95450200-95452600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr8:95450200-95455000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:95450200-95464200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:95450200-95480000	Weak transcription	NHEK	skin
47	chr8:95450400-95452800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:95450400-95460600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:95450400-95479800	Weak transcription	HMEC	breast
50	chr8:95450600-95452800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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