Variant report

Variant	rs13374649
Chromosome Location	chr1:180622334-180622335
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180617456..180619128-chr1:180621082..180622603,2	K562	blood:
2	chr1:180495342..180496951-chr1:180619499..180622464,2	K562	blood:
3	chr1:180619033..180620740-chr1:180621904..180624430,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10914067	1.00[CEU][hapmap];0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs10914089	1.00[YRI][hapmap]
rs11487340	1.00[EUR][1000 genomes]
rs12060106	1.00[EUR][1000 genomes]
rs12063811	1.00[EUR][1000 genomes]
rs12073959	1.00[EUR][1000 genomes]
rs12075181	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs12075718	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12079057	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12084966	0.87[EUR][1000 genomes]
rs12094045	1.00[YRI][hapmap]
rs12238979	1.00[EUR][1000 genomes]
rs12240182	1.00[EUR][1000 genomes]
rs28556586	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6425649	1.00[CEU][hapmap]
rs6671675	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6692545	1.00[CEU][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6700702	1.00[CEU][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73036505	1.00[EUR][1000 genomes]
rs73036508	1.00[EUR][1000 genomes]
rs73047686	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73047695	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73049484	1.00[EUR][1000 genomes]
rs73049487	1.00[EUR][1000 genomes]
rs73051218	1.00[EUR][1000 genomes]
rs7553766	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7556291	1.00[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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv3344943	chr1:180622014-180622486	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180602000-180645200	Weak transcription	Gastric	stomach
2	chr1:180603200-180622400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:180603600-180626400	Weak transcription	Fetal Lung	lung
4	chr1:180604000-180623200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:180605600-180625800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:180605800-180625000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:180609800-180625800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:180612800-180626400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:180613000-180623000	Weak transcription	Brain Anterior Caudate	brain
10	chr1:180613200-180632600	Weak transcription	Aorta	Aorta
11	chr1:180613400-180626400	Weak transcription	Adipose Nuclei	Adipose
12	chr1:180613400-180626600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:180615600-180623800	Weak transcription	Primary B cells from cord blood	blood
14	chr1:180616200-180624800	Weak transcription	Primary T cells from cord blood	blood
15	chr1:180616400-180627200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:180616600-180622800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:180616600-180624400	Weak transcription	K562	blood
18	chr1:180616600-180626000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:180619600-180632600	Weak transcription	Pancreas	Pancrea
20	chr1:180619600-180634600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:180621600-180622600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:180621800-180622400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:180622000-180622400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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