Variant report

Variant	rs11277
Chromosome Location	chr1:211745154-211745155
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211692734..211695713-chr1:211744143..211747035,2	MCF-7	breast:
2	chr1:211729557..211732599-chr1:211743450..211747456,3	K562	blood:
3	chr1:211721060..211723722-chr1:211744392..211746338,2	K562	blood:
4	chr1:211431710..211433363-chr1:211744568..211747446,2	K562	blood:
5	chr1:211694132..211696485-chr1:211743577..211746464,2	MCF-7	breast:
6	chr1:211738614..211743299-chr1:211744203..211747378,6	K562	blood:
7	chr1:211431188..211433363-chr1:211744568..211747070,2	K562	blood:

Variant related genes	Relation type
ENSG00000117625	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11119773	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7526700	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1796467	chr1:211726975-211769893	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1840920	chr1:211726975-211769893	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1836726	chr1:211736470-211752981	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211734400-211748000	Weak transcription	Placenta	Placenta
2	chr1:211738800-211746000	Weak transcription	HepG2	liver
3	chr1:211738800-211748200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:211740200-211745800	Weak transcription	Hela-S3	cervix
5	chr1:211740400-211745400	Weak transcription	Liver	Liver
6	chr1:211741400-211745200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:211741400-211747400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:211741400-211747400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:211741600-211747400	Weak transcription	K562	blood
10	chr1:211741800-211746600	Weak transcription	NH-A	brain
11	chr1:211742200-211745400	Weak transcription	Osteobl	bone
12	chr1:211742200-211747000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:211742200-211748800	Weak transcription	HSMMtube	muscle
14	chr1:211742400-211745800	Weak transcription	HSMM	muscle
15	chr1:211742400-211748600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:211742600-211746000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:211742800-211745400	Weak transcription	NHDF-Ad	bronchial
18	chr1:211743000-211747200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:211743200-211748400	Weak transcription	Fetal Lung	lung
20	chr1:211743400-211745200	Weak transcription	Colonic Mucosa	Colon
21	chr1:211743400-211746000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:211743400-211746800	Weak transcription	NHLF	lung
23	chr1:211743600-211745400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:211743600-211746800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:211743800-211746000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:211743800-211747800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:211743800-211748000	Weak transcription	NHEK	skin
28	chr1:211743800-211748600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:211743800-211748800	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:211744000-211748000	Weak transcription	Primary B cells from cord blood	blood
31	chr1:211744200-211746400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:211744200-211747400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:211744400-211745400	Weak transcription	Fetal Intestine Small	intestine
34	chr1:211744400-211748600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:211744600-211745800	Weak transcription	HUVEC	blood vessel
36	chr1:211744600-211747000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:211744600-211748400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:211744600-211748400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:211744600-211748600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:211744600-211748600	Weak transcription	Primary T cells from cord blood	blood
41	chr1:211744600-211749200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:211744800-211746400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr1:211744800-211746400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:211744800-211746800	Strong transcription	A549	lung
45	chr1:211744800-211747000	Strong transcription	Fetal Intestine Large	intestine
46	chr1:211744800-211747200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr1:211744800-211747400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:211744800-211748600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:211745000-211745200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr1:211745000-211746000	Strong transcription	Monocytes-CD14+_RO01746	blood

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