Variant report

Variant	rs974321
Chromosome Location	chr2:233638351-233638352
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	EP300	chr2:233638298-233638820	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233627729..233630145-chr2:233636237..233639208,2	K562	blood:

Variant related genes	Relation type
KCNJ13	TF binding region
GIGYF2	TF binding region
ENSG00000204120	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1022329	0.84[EUR][1000 genomes]
rs10427328	0.82[EUR][1000 genomes]
rs1078323	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10933406	0.81[EUR][1000 genomes]
rs11688166	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11689851	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11893358	0.88[EUR][1000 genomes]
rs12105766	0.85[EUR][1000 genomes]
rs12619195	0.81[EUR][1000 genomes]
rs12993791	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12999865	0.87[EUR][1000 genomes]
rs13001052	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13009957	0.81[EUR][1000 genomes]
rs13021823	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13024330	0.81[EUR][1000 genomes]
rs1446309	0.84[ASN][1000 genomes]
rs17164	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1973675	0.88[EUR][1000 genomes]
rs2289911	0.83[EUR][1000 genomes]
rs2293780	0.88[EUR][1000 genomes]
rs2344611	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2344613	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2592104	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs283465	0.90[EUR][1000 genomes]
rs283467	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs283470	0.80[EUR][1000 genomes]
rs283487	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34707169	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35491427	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4144795	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4144797	0.90[EUR][1000 genomes]
rs62193271	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6704763	0.84[EUR][1000 genomes]
rs6710294	0.83[EUR][1000 genomes]
rs6716488	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6717048	0.83[EUR][1000 genomes]
rs6733495	0.85[EUR][1000 genomes]
rs6739794	0.82[EUR][1000 genomes]
rs737027	0.88[EUR][1000 genomes]
rs7560115	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs921055	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 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	chr2:233565600-233641000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:233585200-233655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:233606200-233638400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:233611600-233645600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:233612000-233640000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:233612000-233644600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:233612200-233638400	Strong transcription	Placenta	Placenta
8	chr2:233614600-233643600	Weak transcription	Small Intestine	intestine
9	chr2:233620200-233640000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:233621400-233644400	Strong transcription	Liver	Liver
11	chr2:233624400-233640000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:233624800-233640000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:233627800-233645000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:233628600-233644200	Weak transcription	Ovary	ovary
15	chr2:233628600-233655400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:233629200-233655800	Weak transcription	Colonic Mucosa	Colon
17	chr2:233629400-233639400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:233629400-233642000	Weak transcription	Gastric	stomach
19	chr2:233629400-233644200	Weak transcription	Right Ventricle	heart
20	chr2:233629400-233649600	Weak transcription	Spleen	Spleen
21	chr2:233629400-233652600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:233629400-233655200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:233629400-233655400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:233630800-233641000	Weak transcription	Fetal Kidney	kidney
25	chr2:233630800-233641200	Weak transcription	Brain Anterior Caudate	brain
26	chr2:233631600-233659200	Weak transcription	Psoas Muscle	Psoas
27	chr2:233632000-233639600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:233632200-233640000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:233633400-233638800	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:233633400-233641000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:233633400-233652600	Weak transcription	Brain Germinal Matrix	brain
32	chr2:233633600-233638600	Weak transcription	Fetal Brain Female	brain
33	chr2:233633600-233638600	Weak transcription	Stomach Mucosa	stomach
34	chr2:233633600-233649600	Weak transcription	Pancreas	Pancrea
35	chr2:233634000-233640600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:233634000-233641000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:233634000-233643400	Weak transcription	Fetal Heart	heart
38	chr2:233634600-233638400	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr2:233634800-233640000	Strong transcription	HSMM	muscle
40	chr2:233635600-233638400	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr2:233635600-233643200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:233636000-233640800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:233636000-233642000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:233636200-233641000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:233636200-233641000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:233636200-233641200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr2:233636200-233641200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:233636200-233643200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:233636200-233643600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:233636200-233644200	Weak transcription	HMEC	breast

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