Variant report

Variant	rs4135044
Chromosome Location	chr12:104361297-104361298
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: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	chr12:104319225..104328292-chr12:104356282..104362179,14	K562	blood:
2	chr12:104356409..104362053-chr12:104528975..104533138,7	MCF-7	breast:
3	chr12:104358555..104361363-chr12:104388778..104391446,2	MCF-7	breast:
4	chr12:104359553..104362361-chr12:104443780..104446717,2	K562	blood:
5	chr12:104360101..104362239-chr12:104530545..104532165,2	MCF-7	breast:
6	chr12:104323078..104325496-chr12:104361053..104362555,2	MCF-7	breast:
7	chr12:104233429..104235958-chr12:104358438..104361946,3	MCF-7	breast:
8	chr12:104361070..104362835-chr12:104394971..104397683,2	MCF-7	breast:
9	chr12:104359459..104362433-chr12:104679529..104682592,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257327	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000120820	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000265072	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10047614	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861150	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861151	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12366629	1.00[ASN][1000 genomes]
rs12369231	1.00[ASN][1000 genomes]
rs12372540	1.00[ASN][1000 genomes]
rs17805003	1.00[ASN][1000 genomes]
rs1866074	1.00[ASN][1000 genomes]
rs4135045	0.81[AFR][1000 genomes]
rs4135063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4135081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4135093	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55684344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56219801	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56369424	1.00[ASN][1000 genomes]
rs6539116	1.00[ASN][1000 genomes]
rs7136550	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138850	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306515	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313381	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv3359723	chr12:104359646-104370785	Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104358600-104361400	Active TSS	HSMMtube	muscle
2	chr12:104358600-104361600	Active TSS	GM12878-XiMat	blood
3	chr12:104358600-104363600	Active TSS	Right Ventricle	heart
4	chr12:104358800-104361600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:104359000-104361600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr12:104360200-104361600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:104360400-104361600	Weak transcription	Spleen	Spleen
8	chr12:104360400-104363200	Weak transcription	Gastric	stomach
9	chr12:104360400-104368000	Weak transcription	Pancreas	Pancrea
10	chr12:104360600-104361400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:104360600-104361600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:104360600-104361600	Flanking Active TSS	Dnd41	blood
13	chr12:104360600-104362200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:104360600-104362600	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr12:104360800-104361400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr12:104360800-104361600	Weak transcription	Esophagus	oesophagus
17	chr12:104360800-104361600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr12:104360800-104361800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr12:104360800-104361800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr12:104360800-104362200	Weak transcription	Ovary	ovary
21	chr12:104360800-104362400	Weak transcription	Aorta	Aorta
22	chr12:104360800-104362400	Enhancers	Brain Germinal Matrix	brain
23	chr12:104360800-104363800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr12:104360800-104363800	Enhancers	Liver	Liver
25	chr12:104360800-104366800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:104360800-104368000	Weak transcription	Lung	lung
27	chr12:104360800-104371200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:104360800-104371200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:104360800-104371200	Weak transcription	Colonic Mucosa	Colon
30	chr12:104360800-104371800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:104360800-104378600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr12:104360800-104381000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:104361000-104361400	Enhancers	Thymus	Thymus
34	chr12:104361000-104361600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:104361000-104361600	Enhancers	Primary B cells from cord blood	blood
36	chr12:104361000-104361600	Weak transcription	Fetal Thymus	thymus
37	chr12:104361000-104361800	Enhancers	Fetal Muscle Leg	muscle
38	chr12:104361000-104361800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr12:104361000-104362000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:104361000-104362000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr12:104361000-104362000	Enhancers	Fetal Brain Male	brain
42	chr12:104361000-104362000	Enhancers	Placenta	Placenta
43	chr12:104361000-104362200	Enhancers	Adipose Nuclei	Adipose
44	chr12:104361000-104362200	Enhancers	Colon Smooth Muscle	Colon
45	chr12:104361000-104362400	Enhancers	Brain Cingulate Gyrus	brain
46	chr12:104361000-104362400	Enhancers	Duodenum Mucosa	Duodenum
47	chr12:104361000-104362400	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr12:104361000-104362400	Enhancers	Small Intestine	intestine
49	chr12:104361000-104362600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:104361000-104363000	Weak transcription	Brain Substantia Nigra	brain

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