Variant report

Variant	rs41445244
Chromosome Location	chr1:151090382-151090383
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	chr1:151040835..151043433-chr1:151088012..151090522,2	K562	blood:
2	chr1:151089435..151091250-chr1:151117616..151120097,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197622	Chromatin interaction
ENSG00000143434	Chromatin interaction
ENSG00000143458	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11800088	1.00[AMR][1000 genomes]
rs11800715	1.00[AMR][1000 genomes]
rs11804061	1.00[AMR][1000 genomes]
rs11804474	1.00[AMR][1000 genomes]
rs11806302	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11809569	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11809979	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11811310	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16832965	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832968	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832988	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833008	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833052	1.00[AMR][1000 genomes]
rs16833054	1.00[AMR][1000 genomes]
rs16833100	1.00[AMR][1000 genomes]
rs16833109	1.00[AMR][1000 genomes]
rs34570433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6657146	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription 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	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv872421	chr1:151055670-151098077	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151044400-151090400	Weak transcription	Right Ventricle	heart
2	chr1:151044400-151103600	Weak transcription	Small Intestine	intestine
3	chr1:151044800-151098800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:151047200-151090400	Weak transcription	Dnd41	blood
5	chr1:151047400-151090400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:151052200-151103000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:151061800-151090400	Weak transcription	Fetal Kidney	kidney
8	chr1:151061800-151105600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:151064200-151103400	Weak transcription	Colonic Mucosa	Colon
10	chr1:151067000-151103400	Weak transcription	Fetal Brain Male	brain
11	chr1:151068400-151090400	Weak transcription	Pancreas	Pancrea
12	chr1:151071400-151090400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:151072400-151091400	Weak transcription	Fetal Lung	lung
14	chr1:151074000-151101000	Weak transcription	Fetal Heart	heart
15	chr1:151077800-151090400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:151078000-151096400	Strong transcription	Fetal Intestine Small	intestine
17	chr1:151079200-151093800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:151079600-151090400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:151079600-151091400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:151079600-151096400	Weak transcription	Hela-S3	cervix
21	chr1:151079800-151091600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:151079800-151097000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:151079800-151102000	Weak transcription	NHDF-Ad	bronchial
24	chr1:151079800-151103400	Weak transcription	NH-A	brain
25	chr1:151079800-151103400	Weak transcription	NHEK	skin
26	chr1:151079800-151103400	Weak transcription	NHLF	lung
27	chr1:151079800-151106200	Weak transcription	HSMMtube	muscle
28	chr1:151079800-151114800	Weak transcription	HSMM	muscle
29	chr1:151080000-151090600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:151080600-151090400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:151081000-151100800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:151081200-151090400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:151081200-151090400	Weak transcription	Brain Substantia Nigra	brain
34	chr1:151081200-151090400	Weak transcription	Lung	lung
35	chr1:151081200-151095000	Weak transcription	Aorta	Aorta
36	chr1:151081200-151102000	Weak transcription	Brain Germinal Matrix	brain
37	chr1:151081200-151103400	Weak transcription	GM12878-XiMat	blood
38	chr1:151081400-151103000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr1:151081600-151090400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:151081600-151090400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:151081600-151097000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:151081800-151097400	Weak transcription	Stomach Mucosa	stomach
43	chr1:151081800-151103000	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:151083400-151103600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:151083800-151090400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr1:151085000-151092600	Strong transcription	Fetal Thymus	thymus
47	chr1:151085000-151093800	Strong transcription	Thymus	Thymus
48	chr1:151085800-151103200	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:151086200-151092000	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:151086400-151090400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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