Variant report

Variant	rs34940604
Chromosome Location	chr15:73071747-73071748
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73070867..73073438-chr15:73080121..73082937,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12437473	0.81[EUR][1000 genomes]
rs12591728	0.86[AMR][1000 genomes]
rs12898814	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12916448	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1346165	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16957297	0.86[AMR][1000 genomes]
rs2162268	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28397892	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28648660	0.81[EUR][1000 genomes]
rs28737436	0.81[EUR][1000 genomes]
rs28866048	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs33923961	0.95[AMR][1000 genomes]
rs7162166	0.86[AMR][1000 genomes]
rs8026286	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8031691	0.81[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	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73043800-73073600	Strong transcription	Fetal Thymus	thymus
2	chr15:73045000-73074200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:73045200-73074200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:73048600-73075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:73060000-73074000	Weak transcription	Stomach Mucosa	stomach
6	chr15:73060000-73075000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr15:73060200-73075200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr15:73060400-73073200	Weak transcription	Colon Smooth Muscle	Colon
9	chr15:73060600-73072000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr15:73061400-73073400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr15:73061400-73073600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr15:73061400-73075000	Weak transcription	Fetal Kidney	kidney
13	chr15:73062600-73073600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:73062800-73073800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:73062800-73074000	Weak transcription	Small Intestine	intestine
16	chr15:73065000-73072800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr15:73065000-73073800	Weak transcription	HMEC	breast
18	chr15:73065000-73074200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr15:73065200-73073800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr15:73065400-73074000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr15:73065400-73074200	Weak transcription	Brain Germinal Matrix	brain
22	chr15:73065600-73073600	Weak transcription	Brain Anterior Caudate	brain
23	chr15:73065800-73073200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr15:73066000-73073600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr15:73066400-73073800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr15:73066800-73072800	Weak transcription	Fetal Lung	lung
27	chr15:73066800-73074200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr15:73067000-73073200	Weak transcription	Spleen	Spleen
29	chr15:73067000-73074200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr15:73067000-73075000	Weak transcription	Esophagus	oesophagus
31	chr15:73067200-73073200	Weak transcription	Gastric	stomach
32	chr15:73067200-73073400	Weak transcription	Brain Hippocampus Middle	brain
33	chr15:73067200-73073600	Weak transcription	Brain Substantia Nigra	brain
34	chr15:73067200-73074000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr15:73067400-73072000	Weak transcription	Osteobl	bone
36	chr15:73067400-73072600	Weak transcription	Fetal Intestine Small	intestine
37	chr15:73067400-73072800	Weak transcription	Pancreas	Pancrea
38	chr15:73067400-73073200	Weak transcription	Thymus	Thymus
39	chr15:73067400-73073400	Weak transcription	Brain Angular Gyrus	brain
40	chr15:73067400-73073600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr15:73067400-73073600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr15:73067400-73073600	Weak transcription	NHLF	lung
43	chr15:73067400-73073800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr15:73067400-73073800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr15:73067400-73074000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr15:73067400-73074000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr15:73067400-73074200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr15:73067400-73074200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr15:73067400-73074200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr15:73067400-73074200	Weak transcription	Fetal Brain Male	brain

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