Variant report

Variant	rs17848090
Chromosome Location	chr12:121176293-121176294
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121175546..121176448-chr12:121409310..121410146,4	MCF-7	breast:
2	chr12:121166188..121170592-chr12:121174629..121177744,4	K562	blood:
3	chr12:121175837..121176393-chr12:121409274..121410074,2	MCF-7	breast:
4	chr12:120965517..120967163-chr12:121175492..121177700,2	K562	blood:
5	chr12:121171766..121173339-chr12:121175246..121177538,2	K562	blood:
6	chr11:67141023..67142718-chr12:121176121..121177621,2	MCF-7	breast:
7	chr12:121169092..121171751-chr12:121174629..121176427,2	K562	blood:
8	chr12:121173832..121176734-chr12:121177102..121180443,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175505	Chromatin interaction
ENSG00000272214	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000256514	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10431372	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10431383	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10849774	0.86[EUR][1000 genomes]
rs10849780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10849781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065184	0.86[EUR][1000 genomes]
rs11065186	0.86[EUR][1000 genomes]
rs11065188	0.86[EUR][1000 genomes]
rs11065189	0.86[EUR][1000 genomes]
rs11065191	0.86[EUR][1000 genomes]
rs11065192	0.86[EUR][1000 genomes]
rs11065193	0.86[EUR][1000 genomes]
rs11065194	1.00[EUR][1000 genomes]
rs11065195	1.00[EUR][1000 genomes]
rs11065196	1.00[EUR][1000 genomes]
rs11065197	1.00[EUR][1000 genomes]
rs11065198	1.00[EUR][1000 genomes]
rs11065199	1.00[EUR][1000 genomes]
rs11065204	1.00[EUR][1000 genomes]
rs11065205	1.00[EUR][1000 genomes]
rs11065214	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065215	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065217	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11065220	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065238	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065240	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065241	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065242	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065243	1.00[ASN][1000 genomes]
rs11065244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065245	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065246	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065262	0.83[EUR][1000 genomes]
rs12228118	1.00[EUR][1000 genomes]
rs12228187	0.86[EUR][1000 genomes]
rs12229164	1.00[EUR][1000 genomes]
rs12229181	1.00[EUR][1000 genomes]
rs12231101	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12231499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2229534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239757	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2239759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3751166	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3809310	0.86[EUR][1000 genomes]
rs3809311	0.86[EUR][1000 genomes]
rs7302002	1.00[EUR][1000 genomes]
rs7973568	1.00[EUR][1000 genomes];0.84[ASN][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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv899558	chr12:121161589-121179939	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1041153	chr12:121171986-121208826	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121164000-121177000	Weak transcription	Aorta	Aorta
2	chr12:121164200-121176400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:121164400-121176600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:121164400-121177600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:121164400-121179600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:121164600-121177000	Weak transcription	Small Intestine	intestine
7	chr12:121164600-121177200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:121164600-121178000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:121164800-121178800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:121165000-121177800	Weak transcription	A549	lung
11	chr12:121165200-121179600	Weak transcription	Psoas Muscle	Psoas
12	chr12:121165600-121178000	Weak transcription	Stomach Mucosa	stomach
13	chr12:121166000-121179800	Strong transcription	Fetal Intestine Small	intestine
14	chr12:121167000-121178400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:121168400-121179200	Weak transcription	HepG2	liver
16	chr12:121168600-121177000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
18	chr12:121168800-121176400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:121168800-121177800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr12:121168800-121178800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:121168800-121178800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:121169000-121176400	Weak transcription	Brain Anterior Caudate	brain
23	chr12:121169000-121176600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:121169000-121176800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:121169000-121177600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr12:121169000-121177600	Weak transcription	Fetal Lung	lung
27	chr12:121169000-121178400	Weak transcription	Brain Substantia Nigra	brain
28	chr12:121169000-121178400	Weak transcription	Osteobl	bone
29	chr12:121169000-121178600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:121169200-121178200	Weak transcription	Brain Germinal Matrix	brain
31	chr12:121169200-121179000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr12:121169200-121179600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:121169200-121180200	Weak transcription	Fetal Thymus	thymus
34	chr12:121171000-121178000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:121171800-121177600	Strong transcription	Fetal Intestine Large	intestine
36	chr12:121171800-121179200	Strong transcription	Fetal Stomach	stomach
37	chr12:121172400-121176400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr12:121172400-121176600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:121172600-121180000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:121174000-121177800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:121174000-121178000	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:121174000-121178000	Genic enhancers	Spleen	Spleen
43	chr12:121174200-121177600	Strong transcription	Left Ventricle	heart
44	chr12:121174200-121177800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr12:121174200-121177800	Strong transcription	Gastric	stomach
46	chr12:121174200-121177800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr12:121174200-121178000	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr12:121174200-121178200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:121174200-121178400	Strong transcription	Colonic Mucosa	Colon
50	chr12:121174200-121178800	Strong transcription	Right Ventricle	heart

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