Variant report

Variant	rs8072801
Chromosome Location	chr17:37437854-37437855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12939229	1.00[EUR][1000 genomes]
rs12940956	1.00[EUR][1000 genomes]
rs12943974	1.00[EUR][1000 genomes]
rs12944316	1.00[EUR][1000 genomes]
rs12945363	1.00[EUR][1000 genomes]
rs16968698	0.89[ASW][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs34136860	0.90[AFR][1000 genomes]
rs34170152	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34819548	0.95[AFR][1000 genomes]
rs34821956	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34968503	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35152961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35269184	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35366897	1.00[ASW][hapmap];0.97[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs35499078	1.00[ASW][hapmap];0.96[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs35790121	1.00[EUR][1000 genomes]
rs35800016	0.88[AFR][1000 genomes]
rs35829705	1.00[ASW][hapmap];0.97[LWK][hapmap];0.81[MKK][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs35846515	1.00[EUR][1000 genomes]
rs36106822	1.00[EUR][1000 genomes]
rs6503512	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs71369734	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71369740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369741	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369742	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369747	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71577045	1.00[EUR][1000 genomes]
rs7218668	1.00[ASW][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs7222063	0.95[YRI][hapmap];0.83[AFR][1000 genomes]
rs7225544	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7226222	1.00[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs8064372	1.00[ASW][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs8068102	0.89[ASW][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];0.95[YRI][hapmap]
rs8069194	1.00[ASW][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8071061	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8073144	1.00[ASW][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs8074199	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs8076843	1.00[ASW][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];0.95[YRI][hapmap]
rs8077259	1.00[ASW][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs8077629	0.90[ASW][hapmap];0.91[YRI][hapmap]
rs8077822	1.00[EUR][1000 genomes]
rs8079346	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057470	chr17:37135183-37549816	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv543339	chr17:37135183-37549816	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
4	nsv833441	chr17:37320807-37476796	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv1061084	chr17:37333956-37501598	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
8	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
9	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
10	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
11	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv1055612	chr17:37409865-37563236	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37407200-37439200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr17:37408000-37440200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr17:37408000-37441600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr17:37408000-37463000	Weak transcription	Small Intestine	intestine
5	chr17:37408200-37442400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr17:37409000-37438800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr17:37409800-37464000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr17:37415000-37443600	Weak transcription	Psoas Muscle	Psoas
9	chr17:37417400-37458600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr17:37417600-37460800	Weak transcription	Fetal Brain Male	brain
11	chr17:37418400-37440800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr17:37425000-37473000	Weak transcription	Pancreas	Pancrea
13	chr17:37426200-37453800	Weak transcription	Aorta	Aorta
14	chr17:37426600-37460800	Weak transcription	Colonic Mucosa	Colon
15	chr17:37426800-37468600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:37429200-37439400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr17:37430800-37462600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:37431000-37443600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr17:37431200-37450800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr17:37431200-37453200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr17:37431200-37453200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr17:37431200-37453200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr17:37431200-37462600	Weak transcription	Colon Smooth Muscle	Colon
24	chr17:37431400-37438600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr17:37431400-37443600	Weak transcription	Left Ventricle	heart
26	chr17:37431400-37452800	Weak transcription	Dnd41	blood
27	chr17:37431400-37453000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr17:37431400-37453200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr17:37431400-37453200	Weak transcription	Brain Substantia Nigra	brain
30	chr17:37431400-37453600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr17:37431400-37453600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:37431400-37473400	Weak transcription	Esophagus	oesophagus
33	chr17:37431600-37442000	Weak transcription	Brain Germinal Matrix	brain
34	chr17:37431600-37453000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr17:37431600-37453800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr17:37431600-37453800	Weak transcription	Right Ventricle	heart
37	chr17:37433000-37438400	Strong transcription	Liver	Liver
38	chr17:37433000-37439200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:37433000-37439400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr17:37433000-37441600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr17:37433400-37444400	Strong transcription	Fetal Thymus	thymus
42	chr17:37433600-37441200	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr17:37433800-37457000	Weak transcription	GM12878-XiMat	blood
44	chr17:37434000-37442400	Strong transcription	Primary T cells from cord blood	blood
45	chr17:37434000-37452400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr17:37434200-37453200	Weak transcription	Primary B cells from cord blood	blood
47	chr17:37434400-37441600	Strong transcription	Thymus	Thymus
48	chr17:37434800-37450200	Weak transcription	Lung	lung
49	chr17:37435200-37453400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr17:37435600-37469400	Weak transcription	Gastric	stomach

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