Variant report

Variant	rs2303152
Chromosome Location	chr5:74641707-74641708
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	chr5:74640727-74641942	K562	blood:	n/a	n/a
2	POLR2A	chr5:74641528-74641818	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:74641678-74641727	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:74630501..74635424-chr5:74638636..74642776,5	K562	blood:
2	chr5:74638395..74641765-chr5:74658081..74661333,3	K562	blood:
3	chr5:74641032..74643144-chr5:74649834..74652816,2	MCF-7	breast:
4	chr5:74635121..74639261-chr5:74640942..74643106,3	MCF-7	breast:

Variant related genes	Relation type
HMGCR	TF binding region
ENSG00000247372	Chromatin interaction
ENSG00000271815	Chromatin interaction
ENSG00000113161	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10515195	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10942736	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10942737	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12055331	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16872521	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16872526	0.84[EUR][1000 genomes]
rs16872528	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16872536	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.81[TSI][hapmap];0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16872555	0.95[AFR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16872556	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16872589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3827608	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3857388	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3895886	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3925086	0.91[ASN][1000 genomes]
rs4629571	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55805408	0.87[ASN][1000 genomes]
rs56082155	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56361267	0.91[ASN][1000 genomes]
rs56981407	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5744566	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.83[ASN][1000 genomes]
rs5744567	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.83[ASN][1000 genomes]
rs5744572	0.83[ASN][1000 genomes]
rs5744578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs57566899	0.91[ASN][1000 genomes]
rs58780510	0.80[EUR][1000 genomes]
rs58789089	0.82[AFR][1000 genomes]
rs59367133	0.87[ASN][1000 genomes]
rs60298841	0.95[AFR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61001560	0.91[ASN][1000 genomes]
rs61080643	0.91[ASN][1000 genomes]
rs61175242	0.91[ASN][1000 genomes]
rs6878576	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs73763057	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73763093	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73763094	0.95[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73763097	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73763098	0.80[EUR][1000 genomes]
rs73763099	0.91[ASN][1000 genomes]
rs73763101	0.95[ASN][1000 genomes]
rs73763102	0.91[ASN][1000 genomes]
rs73764903	0.91[ASN][1000 genomes]
rs73764904	0.89[ASN][1000 genomes]
rs73764905	0.91[ASN][1000 genomes]
rs73764909	0.91[ASN][1000 genomes]
rs73764910	0.91[ASN][1000 genomes]
rs73764914	0.91[ASN][1000 genomes]
rs73764915	0.82[ASN][1000 genomes]
rs73764920	0.87[ASN][1000 genomes]
rs73764921	0.87[ASN][1000 genomes]
rs73764922	0.87[ASN][1000 genomes]
rs73764925	0.83[ASN][1000 genomes]
rs73764928	0.82[AFR][1000 genomes]
rs9791146	0.85[AFR][1000 genomes];0.91[ASN][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	nsv882192	chr5:74641707-74707762	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74633800-74645800	Weak transcription	Gastric	stomach
2	chr5:74633800-74645800	Weak transcription	Spleen	Spleen
3	chr5:74633800-74650400	Weak transcription	Pancreas	Pancrea
4	chr5:74634400-74645400	Weak transcription	Psoas Muscle	Psoas
5	chr5:74634400-74645600	Weak transcription	Esophagus	oesophagus
6	chr5:74634400-74650800	Weak transcription	Aorta	Aorta
7	chr5:74634400-74652400	Weak transcription	Right Ventricle	heart
8	chr5:74634600-74642200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:74634600-74644200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:74634800-74641800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr5:74635000-74641800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:74635000-74643000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:74635000-74644200	Weak transcription	Brain Angular Gyrus	brain
14	chr5:74635000-74645200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:74635000-74652600	Weak transcription	Fetal Heart	heart
16	chr5:74635600-74659600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:74635800-74641800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:74635800-74641800	Weak transcription	Fetal Lung	lung
19	chr5:74635800-74644400	Weak transcription	Ovary	ovary
20	chr5:74635800-74645400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:74635800-74646000	Weak transcription	Small Intestine	intestine
22	chr5:74636400-74643400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:74636400-74645400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:74636800-74641800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:74636800-74645800	Weak transcription	Stomach Mucosa	stomach
26	chr5:74636800-74649200	Strong transcription	K562	blood
27	chr5:74636800-74659200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr5:74637200-74655800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:74637200-74659600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:74637800-74658400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:74637800-74658800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:74638000-74642400	Weak transcription	Fetal Kidney	kidney
33	chr5:74638000-74643000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:74638200-74658400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr5:74638200-74659800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr5:74638200-74660400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr5:74638200-74660400	Strong transcription	Fetal Thymus	thymus
38	chr5:74638400-74642800	Strong transcription	Fetal Stomach	stomach
39	chr5:74638400-74657600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:74638400-74657800	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr5:74638400-74659000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:74638400-74659000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr5:74638400-74659000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:74638400-74659200	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr5:74638400-74659200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr5:74638400-74659800	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr5:74638600-74655000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr5:74638600-74659200	Strong transcription	Dnd41	blood
49	chr5:74638600-74659400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:74638600-74659600	Strong transcription	HUES6 Cell Line	embryonic stem cell

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