Variant report

Variant	rs17849881
Chromosome Location	chr12:49663630-49663631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49656742..49663815-chr12:49736558..49745017,19	MCF-7	breast:
2	chr12:49523107..49527860-chr12:49656151..49664210,14	MCF-7	breast:
3	chr12:49448896..49462070-chr12:49656751..49663992,28	K562	blood:
4	chr12:49462240..49465825-chr12:49663317..49667869,4	K562	blood:
5	chr12:49661105..49664061-chr17:56709024..56710621,2	MCF-7	breast:
6	chr12:49449335..49458365-chr12:49656751..49666981,25	K562	blood:
7	chr12:49660927..49665723-chr12:49685096..49688729,4	MCF-7	breast:
8	chr12:49656722..49663896-chr12:49682381..49687774,8	K562	blood:
9	chr12:49656956..49663896-chr12:49681239..49693031,16	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167550	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000135406	Chromatin interaction
ENSG00000178401	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000200309	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11168952	0.85[EUR][1000 genomes]
rs11168953	0.85[EUR][1000 genomes]
rs11168954	0.85[EUR][1000 genomes]
rs11168955	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11542115	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12310093	0.85[EUR][1000 genomes]
rs17849882	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759170	0.85[EUR][1000 genomes]
rs59965487	0.85[EUR][1000 genomes]
rs73306246	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv976611	chr12:49662416-49664269	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49659200-49673600	Weak transcription	Fetal Brain Male	brain
2	chr12:49659400-49664200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:49659600-49663800	Weak transcription	Brain Germinal Matrix	brain
4	chr12:49659600-49664800	Weak transcription	Fetal Lung	lung
5	chr12:49659600-49668600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:49659600-49669600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:49659600-49673600	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:49659800-49663800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr12:49659800-49668600	Weak transcription	Right Atrium	heart
10	chr12:49660200-49664000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:49661000-49663800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:49661000-49668000	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr12:49661000-49669800	Strong transcription	Fetal Stomach	stomach
14	chr12:49661200-49664000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:49661600-49667400	Weak transcription	Fetal Heart	heart
16	chr12:49661600-49668000	Strong transcription	Fetal Thymus	thymus
17	chr12:49661600-49670600	Weak transcription	Psoas Muscle	Psoas
18	chr12:49661800-49664800	Weak transcription	Small Intestine	intestine
19	chr12:49661800-49668000	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:49662000-49664000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:49662000-49666400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:49662000-49667800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:49662000-49667800	Strong transcription	Dnd41	blood
24	chr12:49662000-49668000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:49662000-49668600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:49662200-49668600	Strong transcription	Primary T cells from cord blood	blood
27	chr12:49662400-49663800	Weak transcription	Stomach Mucosa	stomach
28	chr12:49662600-49663800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:49662600-49664400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:49662600-49665200	Strong transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:49662600-49665400	Strong transcription	Fetal Kidney	kidney
32	chr12:49662600-49668000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:49662600-49668400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr12:49662600-49669000	Strong transcription	Fetal Muscle Leg	muscle
35	chr12:49662800-49663800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:49662800-49663800	Genic enhancers	K562	blood
37	chr12:49662800-49664400	Genic enhancers	NH-A	brain
38	chr12:49662800-49666000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:49662800-49667200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr12:49662800-49667400	Strong transcription	GM12878-XiMat	blood
41	chr12:49662800-49667800	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:49662800-49667800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:49662800-49667800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:49662800-49673400	Weak transcription	Brain Anterior Caudate	brain
45	chr12:49662800-49673400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:49662800-49673400	Weak transcription	Brain Substantia Nigra	brain
47	chr12:49663000-49663800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:49663000-49663800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr12:49663000-49664200	Genic enhancers	Muscle Satellite Cultured Cells	--
50	chr12:49663000-49664400	Genic enhancers	NHDF-Ad	bronchial

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