Variant report

Variant	rs4629571
Chromosome Location	chr5:74658304-74658305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:74657864-74661051	HepG2	liver:	n/a	n/a
2	FOSL2	chr5:74658011-74661037	HepG2	liver:	n/a	chr5:74658301-74658309 chr5:74658297-74658308 chr5:74658299-74658311
3	POLR2A	chr5:74657927-74662229	GM12878	blood:	n/a	n/a
4	MBD4	chr5:74658027-74659167	HepG2	liver:	n/a	n/a
5	POLR2A	chr5:74658093-74660732	K562	blood:	n/a	n/a
6	POLR2A	chr5:74657837-74660880	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr5:74658011-74660907	GM18505	blood:	n/a	n/a
8	POLR2A	chr5:74658050-74661077	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr5:74658104-74658724	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:74652087-74663712	K562	blood:	n/a	n/a
11	POLR2A	chr5:74658088-74660989	K562	blood:	n/a	n/a
12	POLR2A	chr5:74657820-74660677	K562	blood:	n/a	n/a
13	POLR2A	chr5:74657852-74660901	HepG2	liver:	n/a	n/a
14	POLR2A	chr5:74658299-74658719	GM12892	blood:	n/a	n/a
15	POLR2A	chr5:74658015-74659292	GM12891	blood:	n/a	n/a
16	POLR2A	chr5:74658122-74658750	GM12892	blood:	n/a	n/a
17	POLR2A	chr5:74658094-74660117	GM12892	blood:	n/a	n/a
18	POLR2A	chr5:74658025-74659188	A549	lung:	n/a	n/a
19	POLR2A	chr5:74658112-74658717	GM12891	blood:	n/a	n/a
20	POLR2A	chr5:74658069-74661069	K562	blood:	n/a	n/a
21	MBD4	chr5:74658015-74658701	HepG2	liver:	n/a	n/a
22	POLR2A	chr5:74657238-74663648	GM12891	blood:	n/a	n/a
23	POLR2A	chr5:74658096-74658558	GM12891	blood:	n/a	n/a
24	POLR2A	chr5:74658002-74661093	GM12878	blood:	n/a	n/a
25	POLR2A	chr5:74658220-74658681	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr5:74658173-74658986	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr5:74656522-74660873	HepG2	liver:	n/a	n/a
28	POLR2A	chr5:74657264-74660937	HepG2	liver:	n/a	n/a
29	POLR2A	chr5:74658017-74658367	K562	blood:	n/a	n/a
30	POLR2A	chr5:74658031-74659324	K562	blood:	n/a	n/a
31	POLR2A	chr5:74658087-74658641	K562	blood:	n/a	n/a
32	POLR2A	chr5:74652490-74663640	HepG2	liver:	n/a	n/a
33	POLR2A	chr5:74657227-74662001	GM12878	blood:	n/a	n/a
34	POLR2A	chr5:74657980-74660845	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr5:74657870-74663202	SK-N-MC	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:74653801..74656731-chr5:74656826..74658385,2	K562	blood:
2	chr5:74650951..74652799-chr5:74656910..74659506,2	K562	blood:
3	chr5:74649780..74652799-chr5:74656910..74662122,4	K562	blood:
4	chr5:74656438..74658329-chr5:74806583..74808480,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000271815	TF binding region
ENSG00000113161	Chromatin interaction
ENSG00000122008	Chromatin interaction
ENSG00000113163	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10515195	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10942736	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10942737	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12055331	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16872521	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872526	0.82[EUR][1000 genomes]
rs16872528	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872536	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872555	0.95[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs16872556	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1988728	0.82[AFR][1000 genomes]
rs2303152	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3827608	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3925086	0.95[ASN][1000 genomes]
rs55805408	0.91[ASN][1000 genomes]
rs56082155	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs56361267	0.95[ASN][1000 genomes]
rs56981407	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744566	0.87[ASN][1000 genomes]
rs5744567	0.87[ASN][1000 genomes]
rs5744572	0.87[ASN][1000 genomes]
rs57566899	0.95[ASN][1000 genomes]
rs58789089	0.82[AFR][1000 genomes]
rs59367133	0.91[ASN][1000 genomes]
rs60298841	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61001560	0.95[ASN][1000 genomes]
rs61080643	0.95[ASN][1000 genomes]
rs61175242	0.95[ASN][1000 genomes]
rs73763057	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73763093	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73763094	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73763097	0.95[ASN][1000 genomes]
rs73763099	0.96[ASN][1000 genomes]
rs73763101	1.00[ASN][1000 genomes]
rs73763102	0.95[ASN][1000 genomes]
rs73764903	0.95[ASN][1000 genomes]
rs73764904	0.93[ASN][1000 genomes]
rs73764905	0.95[ASN][1000 genomes]
rs73764909	0.95[ASN][1000 genomes]
rs73764910	0.95[ASN][1000 genomes]
rs73764914	0.95[ASN][1000 genomes]
rs73764915	0.87[ASN][1000 genomes]
rs73764920	0.91[ASN][1000 genomes]
rs73764921	0.91[ASN][1000 genomes]
rs73764922	0.91[ASN][1000 genomes]
rs73764925	0.87[ASN][1000 genomes]
rs73764928	0.82[AFR][1000 genomes]
rs9791146	0.85[AFR][1000 genomes];0.95[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	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
2	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr5:74635600-74659600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:74636800-74659200	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:74637200-74659600	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:74637800-74658400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:74637800-74658800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:74638200-74658400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:74638200-74659800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:74638200-74660400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr5:74638200-74660400	Strong transcription	Fetal Thymus	thymus
10	chr5:74638400-74659000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:74638400-74659000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr5:74638400-74659000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:74638400-74659200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr5:74638400-74659200	Strong transcription	Duodenum Mucosa	Duodenum
15	chr5:74638400-74659800	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr5:74638600-74659200	Strong transcription	Dnd41	blood
17	chr5:74638600-74659400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:74638600-74659600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:74638600-74660200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:74638600-74660400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:74638800-74658800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:74638800-74658800	Strong transcription	NHEK	skin
23	chr5:74638800-74659800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:74639000-74658800	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:74639000-74659000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:74639000-74659600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:74639400-74658800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr5:74639400-74659200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:74639400-74660000	Strong transcription	NHLF	lung
30	chr5:74639400-74660400	Strong transcription	HMEC	breast
31	chr5:74639600-74659000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr5:74639600-74659000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:74639600-74659400	Strong transcription	Placenta	Placenta
34	chr5:74639800-74660000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:74640400-74659200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:74641000-74659200	Strong transcription	Fetal Intestine Large	intestine
37	chr5:74641200-74659000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:74641400-74658400	Strong transcription	Adipose Nuclei	Adipose
39	chr5:74642200-74658800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:74643600-74659400	Strong transcription	HUVEC	blood vessel
41	chr5:74644400-74659200	Strong transcription	NHDF-Ad	bronchial
42	chr5:74644800-74658600	Strong transcription	NH-A	brain
43	chr5:74645400-74659800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:74645600-74658600	Strong transcription	Fetal Kidney	kidney
45	chr5:74647400-74659800	Strong transcription	GM12878-XiMat	blood
46	chr5:74650000-74658600	Strong transcription	K562	blood
47	chr5:74650000-74658800	Strong transcription	Stomach Smooth Muscle	stomach
48	chr5:74650000-74658800	Strong transcription	HSMMtube	muscle
49	chr5:74650000-74659600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr5:74650000-74660000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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