Variant report

Variant	rs2811595
Chromosome Location	chr1:93341942-93341943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93296230..93299221-chr1:93341035..93343545,2	MCF-7	breast:
2	chr1:93296680..93298870-chr1:93340207..93343129,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122406	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2774942	1.00[AMR][1000 genomes]
rs2774944	1.00[AMR][1000 genomes]
rs2774948	1.00[AMR][1000 genomes]
rs2811592	1.00[AMR][1000 genomes]
rs2811601	1.00[AMR][1000 genomes]
rs2989013	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv508393	chr1:93290513-93344924	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93304400-93349000	Weak transcription	Aorta	Aorta
2	chr1:93309800-93342400	Weak transcription	NHLF	lung
3	chr1:93316000-93342800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:93320400-93342000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:93325000-93342800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:93325000-93343000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:93325200-93342800	Weak transcription	Liver	Liver
8	chr1:93325200-93343600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:93325200-93348400	Weak transcription	NHEK	skin
10	chr1:93325400-93342000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:93325400-93343400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:93325600-93343200	Weak transcription	HSMMtube	muscle
13	chr1:93328600-93342600	Weak transcription	NHDF-Ad	bronchial
14	chr1:93333000-93348600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:93333600-93343000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:93335400-93343000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:93335600-93342400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:93335800-93348400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:93336400-93348800	Weak transcription	Left Ventricle	heart
20	chr1:93336600-93342000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:93336600-93342000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:93336600-93349200	Weak transcription	HepG2	liver
23	chr1:93337000-93348400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:93337800-93345200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:93338400-93342400	Weak transcription	Brain Germinal Matrix	brain
26	chr1:93338400-93343000	Weak transcription	Adipose Nuclei	Adipose
27	chr1:93338600-93343200	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:93338800-93342000	Weak transcription	Thymus	Thymus
29	chr1:93338800-93342200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr1:93338800-93342600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:93338800-93347800	Weak transcription	HMEC	breast
32	chr1:93338800-93348200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:93338800-93348400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:93339000-93343000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:93339000-93345000	Weak transcription	A549	lung
36	chr1:93339000-93348200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr1:93339000-93352600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:93339400-93342000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:93339400-93342600	Weak transcription	Fetal Stomach	stomach
40	chr1:93339800-93343000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:93340400-93343000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:93340600-93342600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:93340600-93342600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr1:93340800-93342000	Weak transcription	Primary T cells from cord blood	blood
45	chr1:93340800-93342000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:93340800-93342000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:93340800-93342600	Weak transcription	GM12878-XiMat	blood
48	chr1:93340800-93342800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:93340800-93348800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:93340800-93351600	Weak transcription	Small Intestine	intestine

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