Variant report

Variant	rs11048359
Chromosome Location	chr12:26109249-26109250
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:3)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:26107603..26109573-chr12:26124823..26126965,2	K562	blood:
2	chr12:26105978..26107821-chr12:26108027..26109546,2	MCF-7	breast:
3	chr12:26107125..26109528-chr12:26109576..26111769,2	K562	blood:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BHLHE41-2	chr12:26109160-26109280	ENSG00000246695
2	lnc-BHLHE41-2	chr12:26109160-26109280	ENSG00000246695
3	lnc-BHLHE41-2	chr12:26109160-26109280	ENSG00000246695
4	lnc-BHLHE41-2	chr12:26109160-26109280	ENSG00000246695
5	lnc-BHLHE41-2	chr12:26109160-26109280	NONHSAT027370
6	lnc-BHLHE41-2	chr12:26109160-26109280	ENSG00000246695
7	lnc-BHLHE41-2	chr12:26109160-26109280	ENSG00000246695
8	lnc-BHLHE41-2	chr12:26109160-26109280	ENSG00000246695
9	lnc-BHLHE41-2	chr12:26105691-26109280	NONHSAT027366
10	lnc-BHLHE41-2	chr12:26109160-26109280	NONHSAT027374
11	lnc-BHLHE41-2	chr12:26109160-26109280	NONHSAT027377
12	lnc-BHLHE41-2	chr12:26109160-26109280	NONHSAT027378
13	lnc-BHLHE41-2	chr12:26109160-26109280	NONHSAT027381
14	lnc-BHLHE41-2	chr12:26109135-26109280	NONHSAT140062
15	lnc-BHLHE41-2	chr12:26109160-26109280	NR_038228
16	lnc-BHLHE41-2	chr12:26109160-26109280	NONHSAT027371
17	lnc-BHLHE41-2	chr12:26109160-26109280	ENSG00000246695
18	lnc-BHLHE41-2	chr12:26109160-26109280	ENSG00000246695

No data

Variant related genes	Relation type
ENSG00000246695	Chromatin interaction
ENSG00000123094	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv557802	chr12:26093161-26112158	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv17456	chr12:26108846-26114910	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26085400-26110600	Weak transcription	Aorta	Aorta
2	chr12:26086800-26110600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:26090200-26110200	Weak transcription	Brain Substantia Nigra	brain
4	chr12:26091400-26110000	Weak transcription	Psoas Muscle	Psoas
5	chr12:26092000-26110600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:26092800-26109400	Weak transcription	Ovary	ovary
7	chr12:26093400-26110400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:26095800-26111000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:26097400-26110600	Weak transcription	Right Ventricle	heart
10	chr12:26097600-26110400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:26098000-26110200	Weak transcription	HSMM	muscle
12	chr12:26099800-26110200	Weak transcription	Brain Anterior Caudate	brain
13	chr12:26101400-26110600	Weak transcription	Placenta	Placenta
14	chr12:26104000-26109400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:26104000-26110600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:26104200-26110200	Weak transcription	NH-A	brain
17	chr12:26104200-26110200	Weak transcription	NHEK	skin
18	chr12:26104200-26110600	Weak transcription	Liver	Liver
19	chr12:26104400-26110400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:26104600-26109600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:26104600-26110000	Weak transcription	Hela-S3	cervix
22	chr12:26105400-26110000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:26105400-26110200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:26105600-26110000	Weak transcription	NHLF	lung
25	chr12:26105800-26110600	Weak transcription	Fetal Intestine Small	intestine
26	chr12:26105800-26110600	Weak transcription	HSMMtube	muscle
27	chr12:26106000-26110800	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:26106400-26110200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr12:26106400-26110600	Weak transcription	Adipose Nuclei	Adipose
30	chr12:26106400-26110600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:26106800-26110600	Weak transcription	Fetal Intestine Large	intestine
32	chr12:26107400-26110200	Weak transcription	Fetal Kidney	kidney
33	chr12:26107400-26110600	Weak transcription	Left Ventricle	heart
34	chr12:26107600-26110400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:26107800-26110200	Weak transcription	Fetal Lung	lung
36	chr12:26108000-26110600	Weak transcription	Brain Angular Gyrus	brain
37	chr12:26108000-26110600	Weak transcription	Fetal Stomach	stomach
38	chr12:26108200-26110200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:26108200-26110200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:26108400-26110200	Weak transcription	Fetal Muscle Leg	muscle
41	chr12:26108400-26110400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr12:26108800-26110000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:26108800-26110600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:26109000-26109400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:26109000-26110000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:26109000-26110000	Weak transcription	NHDF-Ad	bronchial
47	chr12:26109000-26110200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:26109000-26110200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:26109000-26110200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:26109000-26110200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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