Variant report

Variant	rs62481103
Chromosome Location	chr7:128045321-128045322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:76)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:76 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr7:128045216-128046209	A549	lung:	n/a	n/a
2	MAZ	chr7:128045015-128046571	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr7:128045148-128045843	Hela-S3	cervix:	n/a	chr7:128045736-128045746
4	MAX	chr7:128044953-128046164	Hela-S3	cervix:	n/a	n/a
5	MAX	chr7:128045164-128046311	HepG2	liver:	n/a	n/a
6	MAX	chr7:128045033-128046341	NB4	blood:	n/a	n/a
7	MYC	chr7:128045209-128046325	K562	blood:	n/a	n/a
8	CTCF	chr7:128045320-128045470	HepG2	liver:	n/a	n/a
9	POLR2A	chr7:128045040-128046024	Hela-S3	cervix:	n/a	n/a
10	MAX	chr7:128044919-128046296	MCF-7	breast:	n/a	n/a
11	CTCF	chr7:128045320-128045470	HRPEpiC	eye:	n/a	n/a
12	MAX	chr7:128044941-128046323	SK-N-SH	brain:	n/a	n/a
13	MAX	chr7:128045235-128046317	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr7:128045094-128045885	A549	lung:	n/a	n/a
15	MAZ	chr7:128045026-128046705	IMR90	lung:	n/a	n/a
16	MAX	chr7:128045216-128046316	K562	blood:	n/a	n/a
17	SIN3AK20	chr7:128044939-128045426	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr7:128044942-128046060	Hela-S3	cervix:	n/a	n/a
19	MAX	chr7:128045231-128046325	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr7:128045293-128045892	GM12878	blood:	n/a	chr7:128045736-128045746
21	POLR2A	chr7:128045103-128046140	GM18505	blood:	n/a	n/a
22	POLR2A	chr7:128044958-128046324	Raji	blood:	n/a	n/a
23	ELF1	chr7:128045182-128045805	K562	blood:	n/a	n/a
24	ZNF263	chr7:128044906-128045624	HEK293-T-REx	kidney:	n/a	n/a
25	MTA3	chr7:128044861-128045793	GM12878	blood:	n/a	n/a
26	MAX	chr7:128044754-128046287	K562	blood:	n/a	n/a
27	ZBTB7A	chr7:128045087-128046327	K562	blood:	n/a	n/a
28	POLR2A	chr7:128044287-128046496	SK-N-MC	brain:	n/a	n/a
29	HEY1	chr7:128044991-128046162	K562	blood:	n/a	chr7:128046003-128046018 chr7:128046145-128046160 chr7:128045734-128045749
30	POLR2A	chr7:128045137-128045353	HepG2	liver:	n/a	n/a
31	POLR2A	chr7:128044968-128045934	K562	blood:	n/a	n/a
32	ZBTB7A	chr7:128045043-128046358	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr7:128045252-128046009	H1-hESC	embryonic stem cell:	n/a	n/a
34	ELF1	chr7:128044957-128045787	MCF-7	breast:	n/a	n/a
35	POLR2A	chr7:128045060-128045323	ECC-1	luminal epithelium:	n/a	n/a
36	MAFK	chr7:128045302-128045387	K562	blood:	n/a	n/a
37	MAX	chr7:128045246-128046254	ECC-1	luminal epithelium:	n/a	n/a
38	SIN3AK20	chr7:128045251-128046324	K562	blood:	n/a	n/a
39	MAX	chr7:128044995-128046216	SK-N-SH	brain:	n/a	n/a
40	MYC	chr7:128045278-128046319	K562	blood:	n/a	n/a
41	MYC	chr7:128045301-128046191	K562	blood:	n/a	n/a
42	POLR2A	chr7:128044932-128046191	HL-60	blood:	n/a	n/a
43	EBF1	chr7:128044909-128045353	GM12878	blood:	n/a	n/a
44	MAX	chr7:128045303-128046275	K562	blood:	n/a	n/a
45	MAX	chr7:128044792-128046305	A549	lung:	n/a	n/a
46	ELF1	chr7:128045208-128045783	K562	blood:	n/a	n/a
47	MAX	chr7:128045253-128046007	HepG2	liver:	n/a	n/a
48	SMARCB1	chr7:128044944-128046261	Hela-S3	cervix:	n/a	n/a
49	RCOR1	chr7:128044903-128045377	Hela-S3	cervix:	n/a	n/a
50	ZBTB7A	chr7:128045206-128046025	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:132201736..132202370-chr7:128045305..128046107,2	Hela-S3	cervix:
2	chr7:127981006..127985181-chr7:128044302..128047781,3	MCF-7	breast:
3	chr7:128044227..128046158-chr7:128169736..128172586,2	K562	blood:
4	chr7:127981986..127985324-chr7:128043786..128047324,3	K562	blood:

No data

Variant related genes	Relation type
IMPDH1	TF binding region
ENSG00000106344	Chromatin interaction
ENSG00000164405	Chromatin interaction
ENSG00000238750	Chromatin interaction
ENSG00000164404	Chromatin interaction
ENSG00000242588	Chromatin interaction
ENSG00000273270	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1048531	0.87[AMR][1000 genomes]
rs10954185	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11763326	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11764599	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11766548	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11766743	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11769087	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11769168	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11769333	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11771063	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11771514	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12532613	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12540060	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12540762	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1864232	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2288550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288554	0.87[AMR][1000 genomes]
rs35501542	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3793164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55706726	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57124454	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57715170	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58727049	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62481099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481100	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481115	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62481116	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62481123	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62481124	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs66511422	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	esv2493565	chr7:127985695-128053377	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3478325	chr7:127986726-128053483	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3478326	chr7:127986726-128053483	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv515737	chr7:128044035-128050417	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	esv3355278	chr7:128044741-128047289	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	esv3391700	chr7:128045116-128047314	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128043200-128045400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:128043800-128045400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:128043800-128045400	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
4	chr7:128044000-128045400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:128044000-128045400	Flanking Active TSS	GM12878-XiMat	blood
6	chr7:128044000-128045600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
7	chr7:128044000-128045600	Flanking Active TSS	Fetal Brain Female	brain
8	chr7:128044200-128045400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:128044200-128045400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:128044200-128045400	Flanking Active TSS	Hela-S3	cervix
11	chr7:128044200-128045400	Flanking Active TSS	HepG2	liver
12	chr7:128044200-128045600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr7:128044200-128045600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr7:128044200-128045600	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
15	chr7:128044200-128045600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr7:128044200-128045600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr7:128044200-128045600	Flanking Active TSS	HMEC	breast
18	chr7:128044200-128045600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr7:128044200-128045800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr7:128044200-128045800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:128044200-128045800	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr7:128044200-128045800	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr7:128044200-128046000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:128044200-128046000	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr7:128044400-128045400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:128044400-128045400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:128044400-128045600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr7:128044400-128045600	Flanking Active TSS	NH-A	brain
29	chr7:128044400-128045600	Flanking Active TSS	NHEK	skin
30	chr7:128044400-128045800	Flanking Active TSS	K562	blood
31	chr7:128044600-128045400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:128044600-128045400	Flanking Active TSS	A549	lung
33	chr7:128044600-128045600	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr7:128044600-128045600	Enhancers	Fetal Heart	heart
35	chr7:128044600-128045600	Flanking Active TSS	HUVEC	blood vessel
36	chr7:128044600-128045800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:128044600-128045800	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr7:128044600-128045800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
39	chr7:128044600-128046000	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr7:128044600-128046400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr7:128044800-128045400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
42	chr7:128044800-128045400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:128044800-128045400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr7:128044800-128045400	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr7:128044800-128045400	Flanking Active TSS	NHLF	lung
46	chr7:128044800-128045600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:128044800-128045600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:128044800-128045600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr7:128044800-128045600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr7:128044800-128045800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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