Variant report

Variant	rs17097309
Chromosome Location	chr1:67410038-67410039
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	chr1:67409222..67411478-chr1:67414962..67417860,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11208970	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11208975	0.91[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12061039	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12069845	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12071769	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.93[YRI][hapmap]
rs12083687	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12090768	0.91[AMR][1000 genomes]
rs12091598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2104414	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7528178	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9660023	0.81[AMR][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	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv871720	chr1:67357596-67435161	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67396600-67416600	Weak transcription	Spleen	Spleen
2	chr1:67396800-67411200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:67396800-67414400	Weak transcription	Lung	lung
4	chr1:67396800-67429800	Weak transcription	Pancreas	Pancrea
5	chr1:67396800-67458200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:67396800-67459000	Weak transcription	Esophagus	oesophagus
7	chr1:67397600-67411000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:67397600-67411200	Weak transcription	Placenta	Placenta
9	chr1:67397600-67411200	Weak transcription	Fetal Stomach	stomach
10	chr1:67397600-67413000	Weak transcription	Fetal Brain Female	brain
11	chr1:67397600-67413000	Weak transcription	Fetal Kidney	kidney
12	chr1:67397600-67416600	Weak transcription	Right Ventricle	heart
13	chr1:67397600-67424400	Weak transcription	Colonic Mucosa	Colon
14	chr1:67397600-67457600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:67397800-67412400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:67397800-67412400	Weak transcription	Brain Germinal Matrix	brain
17	chr1:67398400-67412200	Weak transcription	Fetal Brain Male	brain
18	chr1:67398400-67414000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:67398600-67411000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:67399000-67416400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:67399800-67411200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:67400000-67411200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:67400200-67410200	Weak transcription	HSMMtube	muscle
24	chr1:67400400-67410600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:67400400-67413200	Weak transcription	Brain Substantia Nigra	brain
26	chr1:67400400-67413200	Weak transcription	Fetal Lung	lung
27	chr1:67400600-67466600	Weak transcription	Aorta	Aorta
28	chr1:67400800-67413200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:67401200-67413200	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:67401400-67412200	Weak transcription	Brain Anterior Caudate	brain
31	chr1:67401600-67410200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:67403200-67412600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:67403200-67412600	Weak transcription	Psoas Muscle	Psoas
34	chr1:67403200-67419800	Weak transcription	Gastric	stomach
35	chr1:67403200-67429400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:67403400-67412600	Weak transcription	Left Ventricle	heart
37	chr1:67403800-67410400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:67403800-67412200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:67404400-67411000	Weak transcription	Thymus	Thymus
40	chr1:67404800-67412400	Weak transcription	Stomach Mucosa	stomach
41	chr1:67405200-67411200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:67405200-67411200	Weak transcription	Liver	Liver
43	chr1:67405200-67431400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:67405600-67412200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr1:67405600-67445400	Strong transcription	Fetal Thymus	thymus
46	chr1:67406200-67412600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr1:67406200-67433000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr1:67406400-67414000	Strong transcription	Primary B cells from cord blood	blood
49	chr1:67406400-67439200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr1:67406400-67455600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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