Variant report

Variant	rs17200216
Chromosome Location	chr3:136067232-136067233
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136062780..136064469-chr3:136066543..136068055,2	K562	blood:
2	chr3:135913544..135916307-chr3:136066201..136068318,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174579	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12695645	0.93[EUR][1000 genomes]
rs13072038	0.88[EUR][1000 genomes]
rs13092193	1.00[CEU][hapmap]
rs13316214	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13321721	1.00[CEU][hapmap]
rs13326151	1.00[CEU][hapmap]
rs17298525	1.00[CEU][hapmap]
rs17364492	1.00[CEU][hapmap];0.92[YRI][hapmap]
rs28634226	1.00[CEU][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34031772	0.91[EUR][1000 genomes]
rs34135127	1.00[CEU][hapmap]
rs34282798	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34324561	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34757183	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34913797	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs6768743	1.00[CEU][hapmap]
rs6771002	1.00[CEU][hapmap]
rs6796523	0.93[EUR][1000 genomes]
rs9810051	0.92[EUR][1000 genomes]
rs9812579	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs9813115	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9813691	1.00[CEU][hapmap]
rs9818536	0.88[EUR][1000 genomes]
rs9820621	0.92[EUR][1000 genomes]
rs9823373	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9826454	0.82[EUR][1000 genomes]
rs9837158	0.86[CEU][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9841529	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9844666	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs9866840	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9870825	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9872178	0.93[EUR][1000 genomes]
rs9878078	1.00[CEU][hapmap]
rs9880211	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][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	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv948461	chr3:135969755-136349636	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv877519	chr3:136035737-136279390	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv877520	chr3:136056861-136310985	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136039000-136072400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:136042400-136078800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr3:136042600-136072600	Strong transcription	Dnd41	blood
4	chr3:136043400-136098600	Weak transcription	Fetal Brain Male	brain
5	chr3:136043600-136082000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:136043800-136070400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:136045600-136079200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:136047600-136098000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr3:136047800-136068200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:136047800-136074800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr3:136051000-136069800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:136051600-136069200	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr3:136051600-136070800	Strong transcription	Fetal Muscle Trunk	muscle
14	chr3:136052200-136069200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:136052800-136070800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr3:136053000-136072400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:136053800-136069000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:136054200-136085400	Weak transcription	Brain Hippocampus Middle	brain
19	chr3:136054600-136074200	Weak transcription	Brain Angular Gyrus	brain
20	chr3:136054600-136172000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr3:136054800-136076600	Weak transcription	Brain Substantia Nigra	brain
22	chr3:136055400-136069000	Weak transcription	Aorta	Aorta
23	chr3:136055600-136073400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:136055600-136100800	Weak transcription	Spleen	Spleen
25	chr3:136057800-136069800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:136059000-136067600	Weak transcription	Fetal Kidney	kidney
27	chr3:136059000-136072000	Weak transcription	GM12878-XiMat	blood
28	chr3:136059200-136069200	Weak transcription	Psoas Muscle	Psoas
29	chr3:136059600-136070400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:136059600-136079000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:136060000-136067600	Weak transcription	Brain Anterior Caudate	brain
32	chr3:136060400-136069200	Weak transcription	Right Ventricle	heart
33	chr3:136061800-136074200	Weak transcription	Brain Germinal Matrix	brain
34	chr3:136062400-136067400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr3:136063000-136067400	Weak transcription	Ovary	ovary
36	chr3:136063200-136071000	Weak transcription	Fetal Brain Female	brain
37	chr3:136063200-136072200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr3:136063400-136067800	Weak transcription	HSMM	muscle
39	chr3:136063400-136068600	Weak transcription	NHEK	skin
40	chr3:136063400-136068800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr3:136063400-136069000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:136063400-136069000	Weak transcription	Colon Smooth Muscle	Colon
43	chr3:136063400-136069000	Weak transcription	Fetal Heart	heart
44	chr3:136063400-136069000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr3:136063400-136069000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr3:136063400-136069000	Weak transcription	Thymus	Thymus
47	chr3:136063400-136069200	Weak transcription	Esophagus	oesophagus
48	chr3:136063400-136069200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr3:136063400-136069200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr3:136063400-136071800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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