Variant report

Variant	rs73923031
Chromosome Location	chr2:36787379-36787380
allele	C/T
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	chr2:36786222-36789376	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr2:36786195-36787540	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:36780183-36787605	A549	lung:	n/a	n/a
4	POLR2A	chr2:36786273-36787657	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr2:36786274-36789313	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr2:36786334-36787616	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
FEZ2	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10194458	1.00[AMR][1000 genomes]
rs17018748	1.00[AMR][1000 genomes]
rs56389851	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60424242	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61365906	1.00[AMR][1000 genomes]
rs72866858	1.00[AMR][1000 genomes]
rs72868404	1.00[AMR][1000 genomes]
rs72868469	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924827	1.00[AMR][1000 genomes]
rs73924838	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	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:36729600-36790200	Weak transcription	Small Intestine	intestine
3	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:36764000-36790200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:36764800-36791800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:36766000-36791800	Weak transcription	Esophagus	oesophagus
7	chr2:36766400-36788600	Weak transcription	Fetal Brain Male	brain
8	chr2:36769800-36790400	Weak transcription	Spleen	Spleen
9	chr2:36771000-36789000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:36771200-36788400	Weak transcription	Stomach Mucosa	stomach
11	chr2:36771400-36802800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:36773000-36811200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:36774400-36789000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:36776600-36792600	Weak transcription	Right Ventricle	heart
15	chr2:36776600-36804800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:36776600-36804800	Weak transcription	Fetal Brain Female	brain
17	chr2:36777400-36790600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:36777400-36795000	Weak transcription	Fetal Heart	heart
19	chr2:36777800-36788000	Weak transcription	Brain Anterior Caudate	brain
20	chr2:36778600-36790400	Weak transcription	Psoas Muscle	Psoas
21	chr2:36779200-36788800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:36779200-36791600	Weak transcription	Fetal Intestine Small	intestine
23	chr2:36779400-36788400	Weak transcription	Aorta	Aorta
24	chr2:36779400-36788400	Weak transcription	Ovary	ovary
25	chr2:36779400-36789000	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:36779400-36789600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:36779400-36789600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:36779400-36805000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:36779800-36789200	Weak transcription	Brain Substantia Nigra	brain
30	chr2:36780000-36787800	Weak transcription	Fetal Kidney	kidney
31	chr2:36780000-36804800	Weak transcription	Brain Germinal Matrix	brain
32	chr2:36780800-36790400	Weak transcription	Pancreas	Pancrea
33	chr2:36781000-36788000	Weak transcription	Brain Angular Gyrus	brain
34	chr2:36781200-36788400	Weak transcription	Left Ventricle	heart
35	chr2:36781400-36791800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:36782000-36790200	Weak transcription	Thymus	Thymus
37	chr2:36782000-36792400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:36782000-36805400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:36782200-36790400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:36782400-36788000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:36782600-36788200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:36782600-36788400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:36782600-36788400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:36782600-36788600	Weak transcription	Fetal Thymus	thymus
45	chr2:36782600-36788800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:36782600-36790400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:36782600-36798400	Weak transcription	Gastric	stomach
48	chr2:36782800-36787800	Weak transcription	HMEC	breast
49	chr2:36782800-36789600	Weak transcription	Liver	Liver
50	chr2:36782800-36789600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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