Variant report

Variant	rs2502814
Chromosome Location	chr1:161203451-161203452
allele	C/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	POLR2A	chr1:161203418-161203730	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:161203369-161204112	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:161203236-161203486	K562	blood:	n/a	n/a
4	POLR2A	chr1:161203421-161203673	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161194292..161205045-chr1:161279588..161288493,17	K562	blood:
2	chr1:161198933..161201204-chr1:161201944..161204407,2	MCF-7	breast:

Variant related genes	Relation type
NR1I3	TF binding region
ENSG00000143252	Chromatin interaction
ENSG00000143257	Chromatin interaction
ENSG00000158887	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2502801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2502816	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161196400-161207800	Weak transcription	Small Intestine	intestine
2	chr1:161197600-161205600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:161198800-161208200	Weak transcription	NHDF-Ad	bronchial
4	chr1:161199400-161203800	Weak transcription	NHLF	lung
5	chr1:161199400-161204000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:161199800-161208000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:161199800-161208000	Weak transcription	Hela-S3	cervix
8	chr1:161199800-161211600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:161200200-161204200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:161200200-161204600	Weak transcription	HUVEC	blood vessel
11	chr1:161200200-161205800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:161200200-161207400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:161200200-161208000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:161200400-161204200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:161200400-161205800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:161200400-161212000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:161200600-161203600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:161200600-161204200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:161200600-161205000	Weak transcription	Brain Substantia Nigra	brain
20	chr1:161200600-161205400	Weak transcription	Adipose Nuclei	Adipose
21	chr1:161200600-161208000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:161200600-161211400	Weak transcription	K562	blood
23	chr1:161200800-161203600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr1:161200800-161203800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:161200800-161203800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:161200800-161204000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr1:161200800-161204000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:161200800-161204400	Weak transcription	Pancreas	Pancrea
29	chr1:161200800-161204600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:161200800-161205600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:161200800-161206200	Weak transcription	Brain Anterior Caudate	brain
32	chr1:161200800-161206200	Weak transcription	Gastric	stomach
33	chr1:161200800-161207800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr1:161200800-161208000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:161200800-161208200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:161200800-161211600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr1:161200800-161214000	Weak transcription	Esophagus	oesophagus
38	chr1:161201000-161203600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:161201000-161205000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:161201000-161211800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:161201200-161203600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:161201200-161203600	Weak transcription	Brain Germinal Matrix	brain
43	chr1:161201200-161203800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:161201200-161204400	Weak transcription	Placenta	Placenta
45	chr1:161201200-161204600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:161201200-161206400	Weak transcription	HepG2	liver
47	chr1:161201200-161211800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:161201800-161204800	Weak transcription	Fetal Brain Female	brain
49	chr1:161202400-161205600	Genic enhancers	Liver	Liver
50	chr1:161203000-161206800	Weak transcription	H1 Cell Line	embryonic stem cell

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