Variant report

Variant	rs11207327
Chromosome Location	chr1:59371517-59371518
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:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:59242448..59252747-chr1:59356992..59375072,48	K562	blood:
2	chr1:59363087..59366662-chr1:59367277..59371776,8	K562	blood:
3	chr1:59242448..59251438-chr1:59358057..59375559,39	K562	blood:
4	chr1:59368962..59371702-chr1:59384536..59386461,2	MCF-7	breast:
5	chr1:59248088..59252183-chr1:59365231..59372787,10	MCF-7	breast:
6	chr1:59370025..59373918-chr1:59374367..59377851,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-JUN-12	chr1:59371491-59371590	NONHSAT003541
2	lnc-JUN-12	chr1:59371491-59371590	NONHSAT003542
3	lnc-JUN-12	chr1:59371491-59371590	refGeneNc_2716_NR_027120

No data

Variant related genes	Relation type
ENSG00000177606	Chromatin interaction
ENSG00000234807	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12079982	0.83[AFR][1000 genomes]
rs6681035	0.82[MEX][hapmap]

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	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv829959	chr1:59340330-59503085	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv546316	chr1:59368947-59457815	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59369800-59388200	Weak transcription	Gastric	stomach
2	chr1:59370000-59371600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:59370000-59372200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr1:59370000-59373200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:59370000-59377800	Weak transcription	Aorta	Aorta
6	chr1:59370200-59371600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:59370200-59371600	Enhancers	Brain Angular Gyrus	brain
8	chr1:59370200-59371600	Enhancers	K562	blood
9	chr1:59370200-59371600	Enhancers	NHDF-Ad	bronchial
10	chr1:59370200-59371800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:59370200-59371800	Enhancers	Brain Cingulate Gyrus	brain
12	chr1:59370200-59371800	Enhancers	Fetal Intestine Small	intestine
13	chr1:59370200-59372000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:59370200-59372200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:59370200-59372400	Weak transcription	Colonic Mucosa	Colon
16	chr1:59370200-59372400	Enhancers	HepG2	liver
17	chr1:59370200-59373200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:59370200-59373600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:59370200-59374000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:59370200-59374200	Weak transcription	HSMM	muscle
21	chr1:59370200-59374200	Weak transcription	HSMMtube	muscle
22	chr1:59370200-59374200	Weak transcription	Osteobl	bone
23	chr1:59370200-59374400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:59370200-59374400	Weak transcription	Psoas Muscle	Psoas
25	chr1:59370200-59374400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:59370200-59375200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:59370200-59377200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:59370200-59377600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:59370400-59371800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:59370400-59371800	Enhancers	Brain Substantia Nigra	brain
31	chr1:59370400-59372400	Enhancers	A549	lung
32	chr1:59370400-59374400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:59370400-59374400	Weak transcription	Adipose Nuclei	Adipose
34	chr1:59370600-59374200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:59370600-59374200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:59370600-59374200	Weak transcription	HMEC	breast
37	chr1:59370600-59374200	Weak transcription	NH-A	brain
38	chr1:59370600-59374200	Weak transcription	NHEK	skin
39	chr1:59370600-59375200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr1:59370600-59375400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr1:59370600-59375400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:59370600-59377400	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:59370600-59377400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:59370800-59371800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:59370800-59373400	Weak transcription	Hela-S3	cervix
46	chr1:59370800-59374200	Weak transcription	NHLF	lung
47	chr1:59371000-59372000	Enhancers	Brain Hippocampus Middle	brain
48	chr1:59371000-59372600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr1:59371000-59372800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:59371000-59373200	Weak transcription	Lung	lung

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