Variant report

Variant	rs28411388
Chromosome Location	chr5:128430121-128430122
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	MYC	chr5:128429734-128431566	K562	blood:	n/a	chr5:128431028-128431037 chr5:128430990-128430999
2	PAX5	chr5:128430065-128430628	GM12892	blood:	n/a	n/a
3	POLR2A	chr5:128429739-128431146	H1-neurons	neurons:	n/a	n/a
4	MAX	chr5:128429833-128431388	GM12878	blood:	n/a	chr5:128431028-128431037 chr5:128430990-128430999
5	RAD21	chr5:128429628-128430289	MCF-7	breast:	n/a	chr5:128429890-128429909 chr5:128429892-128429904
6	RFX5	chr5:128429978-128431468	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr5:128429904-128431141	HepG2	liver:	n/a	n/a
8	SMARCB1	chr5:128429859-128431293	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr5:128429718-128431221	GM12878	blood:	n/a	chr5:128429887-128429908 chr5:128430207-128430220 chr5:128429892-128429910
10	E2F4	chr5:128429627-128430570	MCF10A-Er-Src	breast:	n/a	chr5:128430234-128430243 chr5:128430390-128430399
11	MAX	chr5:128429829-128431318	K562	blood:	n/a	chr5:128431028-128431037 chr5:128430990-128430999
12	SIN3AK20	chr5:128430089-128430772	PANC-1	pancreas:	n/a	n/a
13	CTCF	chr5:128430000-128430150	RPTEC	kidney:	n/a	n/a
14	USF2	chr5:128429979-128430295	H1-hESC	embryonic stem cell:	n/a	n/a
15	SMC3	chr5:128429772-128431274	Hela-S3	cervix:	n/a	n/a
16	ELF1	chr5:128429856-128430672	GM12878	blood:	n/a	chr5:128430354-128430363
17	CTBP2	chr5:128429794-128431189	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr5:128429911-128431122	GM12878	blood:	n/a	n/a
19	ZBTB7A	chr5:128430045-128430405	HepG2	liver:	n/a	chr5:128430346-128430353
20	HEY1	chr5:128429852-128430708	K562	blood:	n/a	chr5:128430416-128430431 chr5:128430394-128430409
21	CTCF	chr5:128430040-128430190	BJ	skin:	n/a	n/a
22	POLR2A	chr5:128429777-128431327	K562	blood:	n/a	n/a
23	REST	chr5:128429929-128430745	ECC-1	luminal epithelium:	n/a	chr5:128430073-128430083 chr5:128430071-128430091
24	RUNX3	chr5:128429726-128431367	GM12878	blood:	n/a	n/a
25	TAF1	chr5:128429745-128431103	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr5:128429793-128431149	MCF-7	breast:	n/a	n/a
27	POLR2A	chr5:128429964-128430269	HepG2	liver:	n/a	n/a
28	POLR2A	chr5:128429827-128430256	U87	brain:	n/a	n/a
29	MYBL2	chr5:128429842-128431254	HepG2	liver:	n/a	n/a
30	POLR2A	chr5:128430061-128431132	IMR90	lung:	n/a	n/a
31	TAF1	chr5:128429839-128431015	K562	blood:	n/a	n/a
32	POLR2A	chr5:128429979-128430279	HepG2	liver:	n/a	n/a
33	POLR2A	chr5:128429828-128431013	K562	blood:	n/a	n/a
34	NR2F2	chr5:128429583-128430346	K562	blood:	n/a	n/a
35	ZBTB7A	chr5:128429946-128431274	ECC-1	luminal epithelium:	n/a	chr5:128430346-128430353
36	POLR2A	chr5:128429777-128431258	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr5:128429900-128431128	A549	lung:	n/a	n/a
38	REST	chr5:128429957-128430259	SK-N-SH	brain:	n/a	chr5:128430073-128430083 chr5:128430071-128430091
39	RCOR1	chr5:128429821-128431539	Hela-S3	cervix:	n/a	n/a
40	TAF1	chr5:128429791-128431033	ECC-1	luminal epithelium:	n/a	n/a
41	HEY1	chr5:128429817-128430746	K562	blood:	n/a	chr5:128430416-128430431 chr5:128430394-128430409
42	USF2	chr5:128429866-128430341	HepG2	liver:	n/a	n/a
43	RAD21	chr5:128429704-128430760	H1-hESC	embryonic stem cell:	n/a	chr5:128429890-128429909 chr5:128429892-128429904
44	POLR2A	chr5:128429435-128431501	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr5:128429931-128431067	GM12892	blood:	n/a	n/a
46	ELF1	chr5:128430093-128430489	K562	blood:	n/a	chr5:128430354-128430363
47	POLR2A	chr5:128429808-128431156	MCF-7	breast:	n/a	n/a
48	REST	chr5:128429677-128431216	H1-neurons	neurons:	n/a	chr5:128430073-128430083 chr5:128430975-128430988 chr5:128430071-128430091
49	MAX	chr5:128429691-128431286	MCF-7	breast:	n/a	chr5:128431028-128431037 chr5:128430990-128430999
50	PML	chr5:128429749-128431363	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:128430093-128430143	HEEpiC	esophagus:	n/a
2	chr5:128430093-128430143	H1-hESC	embryonic stem cell:	embryo
3	chr5:128430093-128430143	BJ	skin:	n/a
4	chr5:128430093-128430143	HCM	heart:	n/a
5	chr5:128430093-128430143	A549	lung:	n/a
6	chr5:128430093-128430143	AG10803	skin:	n/a
7	chr5:128430093-128430143	GM12891	blood:	n/a
8	chr5:128430093-128430143	AG09319	gingival:	n/a
9	chr5:128430093-128430143	HEK293	kidney:	embryo
10	chr5:128430093-128430143	Hepatocyte	liver:	n/a
11	chr5:128430093-128430143	ProgFib	skin:	n/a
12	chr5:128430093-128430143	U87	brain:	n/a
13	chr5:128430093-128430143	CMK	blood:	n/a
14	chr5:128430093-128430143	HNPCEpiC	eye:	n/a
15	chr5:128430093-128430143	MCF10A-Er-Src	breast:	n/a
16	chr5:128430093-128430143	GM06990	blood:	n/a
17	chr5:128430093-128430143	SK-N-MC	brain:	n/a
18	chr5:128430093-128430143	HL-60	blood:	n/a
19	chr5:128430093-128430143	T-47D	breast:	n/a
20	chr5:128430093-128430143	ovcar-3	ovarian:	n/a
21	chr5:128430093-128430143	SK-N-SH	brain:	n/a
22	chr5:128430093-128430143	Jurkat	blood:	n/a
23	chr5:128430093-128430143	HAEpiC	amniotic membrane:	n/a
24	chr5:128430093-128430143	Caco-2	colon:	n/a
25	chr5:128430093-128430143	HCPEpiC	choroid plexus:	n/a
26	chr5:128430093-128430143	NB4	blood:	n/a
27	chr5:128430093-128430143	NHBE	bronchial:	n/a
28	chr5:128430093-128430143	HRE	kidney:	n/a
29	chr5:128430093-128430143	SAEC	small airway:	n/a
30	chr5:128430093-128430143	AG09309	skin:	n/a
31	chr5:128430093-128430143	SK-N-SH_RA	brain:	n/a
32	chr5:128430093-128430143	PFSK-1	brain:	n/a
33	chr5:128430093-128430143	HRCEpiC	kidney:	n/a
34	chr5:128430093-128430143	HRPEpiC	eye:	n/a
35	chr5:128430093-128430143	HUVEC	blood vessel:	n/a
36	chr5:128430093-128430143	K562	blood:	n/a
37	chr5:128430093-128430143	ECC-1	luminal epithelium:	n/a
38	chr5:128430093-128430143	Hela-S3	cervix:	n/a
39	chr5:128430093-128430143	HPAEpiC	pulmonary alveolar:	n/a
40	chr5:128430093-128430143	PANC-1	pancreas:	n/a
41	chr5:128430093-128430143	NH-A	brain:	n/a
42	chr5:128430093-128430143	BE2_C	brain:	n/a
43	chr5:128430093-128430143	SKMC	muscle:	n/a
44	chr5:128430093-128430143	HIPEpiC	eye:	n/a
45	chr5:128430093-128430143	HMEC	breast:	n/a
46	chr5:128430093-128430143	NT2-D1	testis:	n/a
47	chr5:128430093-128430143	LNCaP	prostate:	n/a
48	chr5:128430093-128430143	IMR90	lung:	fetal
49	chr5:128430093-128430143	NHDF-neo	bronchial:	n/a
50	chr5:128430093-128430143	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:128430025..128430550-chr6:111408327..111408827,2	HCT-116	colon:
2	chr5:128240839..128241886-chr5:128429456..128430395,4	MCF-7	breast:
3	chr5:128299750..128303179-chr5:128428591..128431385,3	MCF-7	breast:
4	chr5:60627981..60628508-chr5:128430013..128430866,2	HCT-116	colon:
5	chr5:128426917..128432397-chr5:128432508..128439991,15	K562	blood:
6	chr5:128429058..128432172-chr5:128432458..128435695,7	MCF-7	breast:
7	chr5:128422228..128425056-chr5:128428398..128430336,2	K562	blood:
8	chr2:27804565..27805161-chr5:128429874..128430374,2	NB4	blood:

Variant related genes	Relation type
ISOC1	TF binding region
MIR4633	TF binding region
MIR4633	CpG island
ISOC1	CpG island
ENSG00000221531	Chromatin interaction
ENSG00000112394	Chromatin interaction
ENSG00000113396	Chromatin interaction
ENSG00000130449	Chromatin interaction
ENSG00000264563	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11951997	1.00[ASN][1000 genomes]
rs11958638	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783134	0.89[ASN][1000 genomes]
rs73235881	1.00[ASN][1000 genomes]
rs73235886	1.00[ASN][1000 genomes]
rs73239508	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830485	chr5:128298622-128480492	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv882842	chr5:128301971-128552706	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv599701	chr5:128328165-128773052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1015525	chr5:128335133-128443859	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv882847	chr5:128368505-128665719	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv882848	chr5:128378225-128516629	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 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	chr5:128429400-128431200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:128429400-128431200	Active TSS	Brain Germinal Matrix	brain
3	chr5:128429400-128431200	Active TSS	Fetal Lung	lung
4	chr5:128429400-128431400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr5:128429400-128431400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr5:128429400-128431400	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr5:128429400-128431600	Active TSS	Fetal Kidney	kidney
8	chr5:128429600-128430200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr5:128429600-128430200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr5:128429600-128430200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:128429600-128430200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:128429600-128430200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr5:128429600-128430200	Active TSS	Right Atrium	heart
14	chr5:128429600-128430200	Flanking Active TSS	HUVEC	blood vessel
15	chr5:128429600-128430400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:128429600-128430600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:128429600-128430800	Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr5:128429600-128431000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr5:128429600-128431000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:128429600-128431000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:128429600-128431000	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr5:128429600-128431200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:128429600-128431200	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr5:128429600-128431200	Active TSS	Brain Anterior Caudate	brain
25	chr5:128429600-128431200	Active TSS	Fetal Intestine Small	intestine
26	chr5:128429600-128431200	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr5:128429600-128431200	Active TSS	HMEC	breast
28	chr5:128429600-128431200	Active TSS	NH-A	brain
29	chr5:128429600-128431400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:128429600-128431400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr5:128429600-128431400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:128429600-128431400	Active TSS	Brain Cingulate Gyrus	brain
33	chr5:128429600-128431400	Active TSS	Brain Hippocampus Middle	brain
34	chr5:128429600-128431400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:128429600-128431400	Active TSS	Colon Smooth Muscle	Colon
36	chr5:128429600-128431400	Active TSS	NHEK	skin
37	chr5:128429600-128431600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:128429600-128431600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:128429600-128431600	Active TSS	Fetal Brain Male	brain
40	chr5:128429600-128431800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:128429600-128431800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:128429600-128431800	Active TSS	Fetal Brain Female	brain
43	chr5:128429600-128432000	Active TSS	Fetal Intestine Large	intestine
44	chr5:128429600-128432000	Active TSS	Ovary	ovary
45	chr5:128429600-128432000	Active TSS	K562	blood
46	chr5:128429600-128432600	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr5:128429600-128432600	Active TSS	Fetal Muscle Trunk	muscle
48	chr5:128429600-128433400	Active TSS	Fetal Stomach	stomach
49	chr5:128429800-128430200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
50	chr5:128429800-128430200	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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