Variant report

Variant	rs60424242
Chromosome Location	chr2:36760703-36760704
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10194458	1.00[AMR][1000 genomes]
rs17018748	1.00[AMR][1000 genomes]
rs56389851	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61365906	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72866858	1.00[AMR][1000 genomes]
rs72868404	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72868469	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922894	1.00[AMR][1000 genomes]
rs73923031	0.91[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:105 , 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	chr2:36733200-36774200	Weak transcription	Fetal Thymus	thymus
4	chr2:36733400-36764400	Weak transcription	Pancreas	Pancrea
5	chr2:36739000-36778200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:36744800-36764200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:36747800-36766200	Weak transcription	Thymus	Thymus
8	chr2:36747800-36768800	Weak transcription	Colonic Mucosa	Colon
9	chr2:36747800-36774200	Weak transcription	Liver	Liver
10	chr2:36748000-36764400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:36748000-36764400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:36749600-36764200	Weak transcription	Brain Germinal Matrix	brain
13	chr2:36749600-36765000	Weak transcription	Fetal Brain Male	brain
14	chr2:36749600-36765200	Weak transcription	Right Ventricle	heart
15	chr2:36749800-36764200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:36749800-36764200	Weak transcription	Spleen	Spleen
17	chr2:36750000-36765200	Weak transcription	Gastric	stomach
18	chr2:36750800-36763200	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:36750800-36764400	Weak transcription	Esophagus	oesophagus
20	chr2:36750800-36783200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:36751000-36761000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:36751000-36764200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:36751200-36774200	Weak transcription	Psoas Muscle	Psoas
25	chr2:36751400-36763600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:36751400-36764200	Weak transcription	Fetal Brain Female	brain
27	chr2:36751400-36764200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:36751600-36764400	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:36751600-36764400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:36752000-36776000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:36752800-36766400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:36753000-36764200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:36753800-36782600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:36754000-36761400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:36754000-36764400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:36754200-36764200	Weak transcription	Left Ventricle	heart
37	chr2:36756200-36763200	Weak transcription	Fetal Stomach	stomach
38	chr2:36756400-36767400	Weak transcription	Primary T cells from cord blood	blood
39	chr2:36756400-36769600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:36756800-36761000	Strong transcription	HUVEC	blood vessel
41	chr2:36757600-36769200	Strong transcription	Placenta	Placenta
42	chr2:36757800-36764400	Strong transcription	A549	lung
43	chr2:36758000-36761000	Strong transcription	NH-A	brain
44	chr2:36758000-36762800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:36758000-36764200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:36758000-36778400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:36758200-36760800	Strong transcription	HepG2	liver
48	chr2:36758200-36761000	Strong transcription	NHLF	lung
49	chr2:36758200-36762400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:36758200-36763200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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