Variant report

Variant	rs2313429
Chromosome Location	chr17:37930659-37930660
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37930340..37932811-chr17:37934515..37937245,3	MCF-7	breast:
2	chr17:37926557..37928473-chr17:37928969..37931505,2	K562	blood:
3	chr17:37928224..37930881-chr17:37931679..37935792,4	K562	blood:
4	chr17:37925962..37928812-chr17:37930496..37932656,3	K562	blood:

Variant related genes	Relation type
ENSG00000161405	Chromatin interaction

Extended variants
information (count: 139 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs12709364	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12937330	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12938117	1.00[EUR][1000 genomes]
rs12938617	0.96[EUR][1000 genomes]
rs12938749	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12940616	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12942660	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12943633	0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs12945253	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12946040	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12946188	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12946792	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12947480	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12952146	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13313561	1.00[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13313564	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13313573	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13380871	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1453560	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1510475	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16965367	1.00[CEU][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17676923	0.83[EUR][1000 genomes]
rs28392589	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28403951	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28449671	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28535471	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28537796	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28580691	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28621669	1.00[EUR][1000 genomes]
rs28648398	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28661421	1.00[EUR][1000 genomes]
rs28695941	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28723017	1.00[EUR][1000 genomes]
rs28842324	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28880017	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28896477	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941509	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3169572	1.00[CEU][hapmap]
rs34016964	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34053394	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34291217	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34344462	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34485135	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34518282	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34582264	0.88[EUR][1000 genomes]
rs34599546	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34640000	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34654193	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34758895	0.92[EUR][1000 genomes]
rs34864615	0.96[EUR][1000 genomes]
rs34925681	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34988504	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35088469	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35105110	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35130019	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35336365	0.86[EUR][1000 genomes]
rs35352075	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35397078	0.88[EUR][1000 genomes]
rs35405174	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35506518	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35938199	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36097841	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4337325	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4622539	1.00[EUR][1000 genomes]
rs56928975	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs58075375	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66763967	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67135646	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67571561	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67600807	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67605703	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369788	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369791	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369792	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7211998	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7217133	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7224641	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73302152	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73304123	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7503018	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8067523	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8068125	1.00[EUR][1000 genomes]
rs8068894	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8069531	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8069893	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8072612	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8076347	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8078409	0.88[EUR][1000 genomes]
rs8079075	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9652838	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9652840	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9892781	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9894370	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs9894680	1.00[EUR][1000 genomes]
rs9894898	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9898031	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9898464	1.00[EUR][1000 genomes]
rs9899006	1.00[EUR][1000 genomes]
rs9899336	1.00[CEU][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9899345	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900019	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900538	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9900541	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9901483	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9901617	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9901917	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9902621	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9904277	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9904834	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9905881	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9907096	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9907291	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9907564	1.00[EUR][1000 genomes]
rs9907794	1.00[EUR][1000 genomes]
rs9907966	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9907988	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9908694	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9908983	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9909365	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9909432	0.89[EUR][1000 genomes]
rs9911069	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9911634	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9911669	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9911688	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9912095	1.00[EUR][1000 genomes]
rs9913044	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9913596	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9913769	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9913795	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9913957	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9914302	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9914516	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs9914665	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9914757	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9915509	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9915797	0.92[EUR][1000 genomes]
rs9916259	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064787	chr17:37892843-38054410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv543342	chr17:37892843-38054410	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37920800-37931000	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr17:37925600-37938400	Weak transcription	Pancreas	Pancrea
3	chr17:37927400-37931000	Genic enhancers	Fetal Thymus	thymus
4	chr17:37928000-37931000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr17:37929400-37930800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr17:37929400-37931200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
7	chr17:37929400-37931400	Genic enhancers	Primary B cells from cord blood	blood
8	chr17:37929400-37932000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr17:37929600-37931000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr17:37929600-37931000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr17:37930000-37930800	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:37930000-37931800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr17:37930200-37930800	Genic enhancers	Primary T cells from cord blood	blood
14	chr17:37930200-37930800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr17:37930200-37931800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr17:37930400-37930800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:37930400-37930800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr17:37930400-37930800	Enhancers	Esophagus	oesophagus
19	chr17:37930400-37930800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr17:37930400-37930800	Transcr. at gene 5' and 3'	Thymus	Thymus
21	chr17:37930400-37931200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr17:37930600-37930800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr17:37930600-37930800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr17:37930600-37930800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
25	chr17:37930600-37930800	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr17:37930600-37930800	Bivalent Enhancer	NHEK	skin
27	chr17:37930600-37931000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr17:37930600-37931000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr17:37930600-37931000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr17:37930600-37932000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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