Variant report

Variant	rs10068
Chromosome Location	chr17:33901965-33901966
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	chr17:33901409-33907583	K562	blood:	n/a	n/a
2	POLR2A	chr17:33901875-33906561	K562	blood:	n/a	n/a
3	POLR2A	chr17:33901823-33902158	K562	blood:	n/a	n/a
4	POLR2A	chr17:33901791-33902097	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr17:33901538-33907315	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:33893761..33897248-chr17:33899377..33902990,5	MCF-7	breast:

Variant related genes	Relation type
AP2B1	TF binding region
ENSG00000267321	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1001441	0.84[JPT][hapmap]
rs1037590	0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs10512472	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs11080357	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11653310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11656138	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12452797	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs12604067	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs1671656	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16971217	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs17637907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs225243	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs225247	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs225251	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs225254	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs225259	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs225262	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs225277	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs225285	0.95[CEU][hapmap]
rs225295	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs225304	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs225306	0.81[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.86[ASN][1000 genomes]
rs2840044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28667378	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2889311	0.82[ASN][1000 genomes]
rs7212704	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7221322	0.83[CEU][hapmap]
rs7501448	0.83[CEU][hapmap]
rs8069037	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8073935	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9891800	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9897552	0.80[CHB][hapmap];0.89[JPT][hapmap]
rs9900378	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9908158	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9913003	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh 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 target site	137 gene(s)	inside rSNPs	diseases
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33895800-33904200	Weak transcription	Right Atrium	heart
2	chr17:33895800-33904800	Weak transcription	Ovary	ovary
3	chr17:33896000-33902200	Weak transcription	HSMMtube	muscle
4	chr17:33896000-33903800	Weak transcription	Brain Angular Gyrus	brain
5	chr17:33896000-33904800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr17:33896200-33905000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:33896200-33905000	Weak transcription	Aorta	Aorta
8	chr17:33896400-33902000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr17:33896400-33904000	Weak transcription	Colon Smooth Muscle	Colon
10	chr17:33896400-33904200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:33896400-33904200	Weak transcription	Psoas Muscle	Psoas
12	chr17:33896400-33904600	Weak transcription	Stomach Mucosa	stomach
13	chr17:33896400-33904800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr17:33896400-33904800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr17:33896400-33904800	Weak transcription	Colonic Mucosa	Colon
16	chr17:33896400-33904800	Weak transcription	Esophagus	oesophagus
17	chr17:33896400-33904800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr17:33896400-33904800	Weak transcription	Right Ventricle	heart
19	chr17:33896400-33905000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr17:33896400-33905000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr17:33896600-33904400	Weak transcription	Brain Substantia Nigra	brain
22	chr17:33896800-33902400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr17:33896800-33903600	Weak transcription	NH-A	brain
24	chr17:33896800-33904000	Weak transcription	Pancreas	Pancrea
25	chr17:33896800-33904000	Weak transcription	Osteobl	bone
26	chr17:33896800-33904200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr17:33897000-33902000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr17:33897000-33902800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr17:33897000-33904400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr17:33897400-33902000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr17:33897400-33902000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr17:33897400-33902000	Weak transcription	HMEC	breast
33	chr17:33897400-33904000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr17:33897600-33902000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr17:33897600-33902000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr17:33897600-33902000	Weak transcription	NHLF	lung
37	chr17:33897600-33902200	Weak transcription	Fetal Brain Female	brain
38	chr17:33897600-33902600	Weak transcription	Brain Anterior Caudate	brain
39	chr17:33897600-33902800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr17:33897600-33902800	Weak transcription	Brain Hippocampus Middle	brain
41	chr17:33897600-33904400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr17:33897600-33904400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr17:33897600-33904400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr17:33897600-33904400	Weak transcription	Fetal Brain Male	brain
45	chr17:33897600-33904400	Weak transcription	HUVEC	blood vessel
46	chr17:33897600-33904600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr17:33897600-33904600	Weak transcription	Fetal Kidney	kidney
48	chr17:33897600-33905000	Weak transcription	Gastric	stomach
49	chr17:33897600-33905000	Weak transcription	Small Intestine	intestine
50	chr17:33897600-33905200	Weak transcription	Spleen	Spleen

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