Variant report

Variant	rs41296716
Chromosome Location	chr1:213037017-213037018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:213036724-213037037	K562	blood:	n/a	chr1:213036881-213036892
2	CEBPB	chr1:213036728-213037152	A549	lung:	n/a	chr1:213036881-213036892
3	CEBPB	chr1:213036728-213037310	Hela-S3	cervix:	n/a	chr1:213036881-213036892
4	CEBPB	chr1:213036785-213037061	H1-hESC	embryonic stem cell:	n/a	chr1:213036881-213036892
5	CEBPB	chr1:213036752-213037135	A549	lung:	n/a	chr1:213036881-213036892

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213032255..213037228-chr1:213037322..213040248,4	K562	blood:
2	chr1:213031674..213033675-chr1:213035938..213038632,2	MCF-7	breast:

Variant related genes	Relation type
FLVCR1	TF binding region
ENSG00000162769	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11801740	1.00[EUR][1000 genomes]
rs11807916	1.00[EUR][1000 genomes]
rs17019640	1.00[EUR][1000 genomes]
rs17019657	1.00[EUR][1000 genomes]
rs28505349	1.00[EUR][1000 genomes]
rs41300963	1.00[EUR][1000 genomes]
rs55787749	1.00[EUR][1000 genomes]
rs55827218	1.00[EUR][1000 genomes]
rs60267007	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60334006	1.00[EUR][1000 genomes]
rs6675972	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6685348	1.00[EUR][1000 genomes]
rs6700258	1.00[EUR][1000 genomes]
rs74138622	1.00[EUR][1000 genomes]
rs74138623	1.00[EUR][1000 genomes]
rs74138629	1.00[EUR][1000 genomes]
rs74138630	1.00[EUR][1000 genomes]
rs74138631	1.00[EUR][1000 genomes]
rs74138632	1.00[EUR][1000 genomes]
rs74138633	1.00[EUR][1000 genomes]
rs74138636	1.00[EUR][1000 genomes]
rs74138700	1.00[EUR][1000 genomes]
rs74140504	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74140506	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74140512	1.00[EUR][1000 genomes]
rs74141106	1.00[EUR][1000 genomes]
rs7511916	1.00[EUR][1000 genomes]
rs7523527	1.00[EUR][1000 genomes]
rs7551969	1.00[EUR][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	nsv1011186	chr1:213005165-213069563	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1013705	chr1:213005344-213064209	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv998261	chr1:213029814-213064209	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv998979	chr1:213029814-213073013	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213032600-213046400	Weak transcription	Ovary	ovary
2	chr1:213032600-213049200	Weak transcription	Right Atrium	heart
3	chr1:213032600-213073000	Weak transcription	Colonic Mucosa	Colon
4	chr1:213032600-213073000	Weak transcription	Esophagus	oesophagus
5	chr1:213032800-213046400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:213032800-213048000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:213032800-213056800	Weak transcription	Fetal Thymus	thymus
8	chr1:213032800-213057800	Weak transcription	Placenta	Placenta
9	chr1:213032800-213061800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:213032800-213062000	Weak transcription	Psoas Muscle	Psoas
11	chr1:213033400-213038200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
12	chr1:213033400-213046800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:213033400-213046800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:213033600-213046800	Weak transcription	Liver	Liver
15	chr1:213033600-213048600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:213033600-213062000	Weak transcription	Thymus	Thymus
17	chr1:213033800-213037600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
18	chr1:213034000-213037400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:213034000-213037400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:213034400-213037200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:213034400-213037200	Weak transcription	Adipose Nuclei	Adipose
22	chr1:213034400-213041200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:213034400-213044800	Weak transcription	HSMMtube	muscle
24	chr1:213034400-213046200	Weak transcription	Fetal Lung	lung
25	chr1:213034400-213046600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:213034400-213046600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:213034400-213048200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr1:213034400-213048400	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:213034400-213058000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:213034400-213068000	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:213034600-213037200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:213034600-213037200	Weak transcription	Osteobl	bone
33	chr1:213034600-213037400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:213034600-213037400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:213034600-213037400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:213034600-213037400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:213034600-213037400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:213034600-213037600	Weak transcription	NH-A	brain
39	chr1:213034600-213039000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:213034600-213039600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:213034600-213041400	Weak transcription	Fetal Stomach	stomach
42	chr1:213034600-213044200	Weak transcription	Aorta	Aorta
43	chr1:213034600-213044800	Weak transcription	Left Ventricle	heart
44	chr1:213034600-213044800	Weak transcription	Pancreas	Pancrea
45	chr1:213034600-213046000	Weak transcription	HMEC	breast
46	chr1:213034600-213046400	Weak transcription	Brain Anterior Caudate	brain
47	chr1:213034600-213046400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:213034600-213046600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr1:213034600-213046800	Weak transcription	Primary B cells from cord blood	blood
50	chr1:213034600-213046800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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