Variant report

Variant	rs1799958
Chromosome Location	chr12:121176083-121176084
allele	A/G
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	chr12:121166233..121168963-chr12:121173743..121176239,2	K562	blood:
4	chr12:121175837..121176393-chr12:121409274..121410074,2	MCF-7	breast:
5	chr12:120965517..120967163-chr12:121175492..121177700,2	K562	blood:
6	chr12:121171766..121173339-chr12:121175246..121177538,2	K562	blood:
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
ENSG00000272214	Chromatin interaction
ENSG00000110871	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12828810	0.91[EUR][1000 genomes]
rs12829722	0.88[EUR][1000 genomes]
rs12832102	0.89[ASN][1000 genomes]
rs2014355	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066938	0.91[EUR][1000 genomes]
rs2239758	0.93[EUR][1000 genomes]
rs2393778	0.84[EUR][1000 genomes]
rs34030695	0.91[EUR][1000 genomes]
rs34673751	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34708625	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35525135	0.87[EUR][1000 genomes]
rs35599677	0.88[EUR][1000 genomes]
rs35771722	0.91[EUR][1000 genomes]
rs36066142	0.92[ASN][1000 genomes]
rs3861791	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3916	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3999408	0.93[EUR][1000 genomes]
rs71454661	0.85[EUR][1000 genomes]
rs7306541	0.86[EUR][1000 genomes]
rs7313271	0.90[EUR][1000 genomes]
rs9204	1.00[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	chr12:121166000-121176200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:121166000-121179800	Strong transcription	Fetal Intestine Small	intestine
15	chr12:121167000-121178400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:121168400-121179200	Weak transcription	HepG2	liver
17	chr12:121168600-121176200	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:121168600-121177000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
20	chr12:121168800-121176400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:121168800-121177800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:121168800-121178800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:121168800-121178800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:121169000-121176200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:121169000-121176200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:121169000-121176400	Weak transcription	Brain Anterior Caudate	brain
27	chr12:121169000-121176600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:121169000-121176800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:121169000-121177600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:121169000-121177600	Weak transcription	Fetal Lung	lung
31	chr12:121169000-121178400	Weak transcription	Brain Substantia Nigra	brain
32	chr12:121169000-121178400	Weak transcription	Osteobl	bone
33	chr12:121169000-121178600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:121169200-121176200	Weak transcription	Fetal Muscle Leg	muscle
35	chr12:121169200-121178200	Weak transcription	Brain Germinal Matrix	brain
36	chr12:121169200-121179000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr12:121169200-121179600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:121169200-121180200	Weak transcription	Fetal Thymus	thymus
39	chr12:121171000-121178000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:121171800-121177600	Strong transcription	Fetal Intestine Large	intestine
41	chr12:121171800-121179200	Strong transcription	Fetal Stomach	stomach
42	chr12:121172400-121176400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:121172400-121176600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:121172600-121180000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:121174000-121177800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:121174000-121178000	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:121174000-121178000	Genic enhancers	Spleen	Spleen
48	chr12:121174200-121176200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:121174200-121176200	Strong transcription	Brain Cingulate Gyrus	brain
50	chr12:121174200-121177600	Strong transcription	Left Ventricle	heart

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