Variant report

Variant	rs41304129
Chromosome Location	chr1:225768045-225768046
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	ZNF263	chr1:225767935-225768401	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225766054..225768167-chr1:225839556..225842131,2	MCF-7	breast:

Variant related genes	Relation type
ENAH	TF binding region
ENSG00000154380	Chromatin interaction

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

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

rs_ID	r²[population]
rs12120530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12139824	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12408092	0.87[EUR][1000 genomes]
rs34718899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753023	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72753057	1.00[AFR][1000 genomes];0.91[EUR][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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225730600-225776200	Weak transcription	Pancreas	Pancrea
2	chr1:225744800-225768200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:225744800-225768600	Weak transcription	Fetal Brain Male	brain
4	chr1:225745000-225770000	Weak transcription	HUVEC	blood vessel
5	chr1:225745000-225772800	Weak transcription	Fetal Brain Female	brain
6	chr1:225748800-225799400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:225749200-225783800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:225754400-225769400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:225755200-225772200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:225759400-225769600	Weak transcription	Lung	lung
11	chr1:225759600-225787600	Weak transcription	Fetal Intestine Small	intestine
12	chr1:225760000-225769800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:225760000-225820600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:225762000-225768600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:225763800-225768200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:225764200-225768600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:225764400-225768600	Enhancers	Fetal Heart	heart
18	chr1:225766200-225768200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:225766200-225768600	Weak transcription	NHLF	lung
20	chr1:225766400-225768200	Weak transcription	Brain Angular Gyrus	brain
21	chr1:225766400-225769800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:225766400-225780000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:225766400-225783600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:225766600-225768600	Weak transcription	A549	lung
25	chr1:225766600-225779600	Weak transcription	NH-A	brain
26	chr1:225766800-225769800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:225767000-225768200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:225767000-225768400	Weak transcription	Osteobl	bone
29	chr1:225767000-225773600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:225767200-225768200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:225767200-225769400	Enhancers	Fetal Lung	lung
32	chr1:225767600-225768200	Enhancers	Brain Substantia Nigra	brain
33	chr1:225767600-225768400	Enhancers	Brain Cingulate Gyrus	brain
34	chr1:225767600-225769200	Enhancers	Brain Hippocampus Middle	brain
35	chr1:225767600-225769200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr1:225767600-225770800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr1:225767800-225768600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:225767800-225768600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr1:225767800-225768800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:225767800-225768800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr1:225767800-225769000	Enhancers	HSMMtube	muscle
42	chr1:225767800-225769200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:225767800-225770400	Enhancers	Colon Smooth Muscle	Colon
44	chr1:225768000-225768200	Enhancers	Brain Germinal Matrix	brain
45	chr1:225768000-225768400	Enhancers	Aorta	Aorta
46	chr1:225768000-225768400	Enhancers	Right Ventricle	heart
47	chr1:225768000-225768400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr1:225768000-225768400	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr1:225768000-225768600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:225768000-225768600	Enhancers	Ovary	ovary

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