Variant report

Variant	rs17045176
Chromosome Location	chr2:53975436-53975437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:53974958..53977915-chr2:53980564..53982281,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10490468	0.92[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs11897282	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11901698	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs1232	0.84[CHB][hapmap];0.80[ASN][1000 genomes]
rs13408029	0.91[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs17045203	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17520505	0.93[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs17521008	0.96[ASN][1000 genomes]
rs2008082	0.86[ASN][1000 genomes]
rs2287340	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2302797	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2542572	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs2542573	0.88[ASN][1000 genomes]
rs2542578	0.83[ASN][1000 genomes]
rs2542580	0.88[ASN][1000 genomes]
rs2542582	0.92[CHB][hapmap];0.82[ASN][1000 genomes]
rs2542583	0.80[ASN][1000 genomes]
rs2542589	0.93[CHB][hapmap];0.89[ASN][1000 genomes]
rs2542590	0.89[ASN][1000 genomes]
rs2542591	0.93[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs2542592	0.84[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2543629	0.92[CHB][hapmap];0.89[ASN][1000 genomes]
rs2692512	0.85[ASN][1000 genomes]
rs2692513	0.85[ASN][1000 genomes]
rs2692519	0.92[CHB][hapmap];0.80[JPT][hapmap];0.85[ASN][1000 genomes]
rs2692521	0.81[ASN][1000 genomes]
rs2692522	0.88[ASN][1000 genomes]
rs2692523	0.83[ASN][1000 genomes]
rs2692530	0.80[ASN][1000 genomes]
rs2692533	0.92[CHB][hapmap];0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs2692535	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2909262	0.81[ASN][1000 genomes]
rs2949813	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35772199	0.88[ASN][1000 genomes]
rs3770394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3770395	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3770397	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770399	0.97[ASN][1000 genomes]
rs3770411	0.92[CHB][hapmap];0.84[ASN][1000 genomes]
rs3922262	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4116709	0.93[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs55897904	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56214822	0.86[ASN][1000 genomes]
rs58326257	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62137573	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62137602	1.00[ASN][1000 genomes]
rs62137605	0.85[ASN][1000 genomes]
rs62137606	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62137610	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62137611	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62137612	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6730006	0.95[ASN][1000 genomes]
rs719127	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs72901256	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7558968	0.86[ASN][1000 genomes]
rs7600817	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805316	0.84[CHB][hapmap]
rs805383	0.80[ASN][1000 genomes]
rs805385	0.80[ASN][1000 genomes]
rs805435	0.88[ASN][1000 genomes]
rs805437	0.84[CHB][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv834058	chr2:53900674-54072011	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 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	chr2:53908600-53982200	Weak transcription	Small Intestine	intestine
2	chr2:53910000-53994000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:53910200-53990600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:53918400-53994000	Weak transcription	Fetal Heart	heart
5	chr2:53925400-53979400	Weak transcription	Psoas Muscle	Psoas
6	chr2:53936600-53978600	Weak transcription	Hela-S3	cervix
7	chr2:53936800-53985400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:53937000-53983800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:53937000-53994400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:53937200-53978600	Weak transcription	NH-A	brain
11	chr2:53937200-53983600	Weak transcription	Right Ventricle	heart
12	chr2:53937200-53994200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:53937400-53979600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:53937400-53990200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:53937400-53994400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:53938400-53982800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:53938400-53983400	Weak transcription	HSMMtube	muscle
18	chr2:53938400-53992400	Weak transcription	K562	blood
19	chr2:53941800-53976400	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:53943800-53983600	Weak transcription	Ovary	ovary
21	chr2:53943800-53983600	Weak transcription	Thymus	Thymus
22	chr2:53943800-53983800	Weak transcription	Left Ventricle	heart
23	chr2:53952200-53978600	Weak transcription	Osteobl	bone
24	chr2:53952400-53983600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:53954800-53982000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:53954800-53983800	Weak transcription	Lung	lung
27	chr2:53956000-53979600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:53956000-53983400	Weak transcription	Fetal Brain Male	brain
29	chr2:53956200-53983000	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:53957000-53983800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:53957800-53983400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:53958000-53977800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:53958200-53994400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:53960400-53983400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:53961800-53976200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:53961800-53979400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:53962000-53978200	Weak transcription	HMEC	breast
38	chr2:53962200-53983400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:53963000-53994000	Weak transcription	A549	lung
40	chr2:53964000-53983600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:53964200-53978000	Weak transcription	NHLF	lung
42	chr2:53964600-53978400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:53964600-53982400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:53964600-53983000	Weak transcription	Fetal Lung	lung
45	chr2:53964800-53977400	Weak transcription	Brain Germinal Matrix	brain
46	chr2:53966200-53982600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr2:53967200-53990200	Weak transcription	Gastric	stomach
48	chr2:53968600-53983400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:53969400-53979400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:53969400-53982200	Weak transcription	Brain Substantia Nigra	brain

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