Variant report

Variant	rs4134885
Chromosome Location	chr7:99717254-99717255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:362)
CpG islands
(count:122)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POU2F2	chr7:99716680-99717429	GM12891	blood:	n/a	n/a
2	SIN3AK20	chr7:99717199-99717652	A549	lung:	n/a	n/a
3	TAF1	chr7:99716437-99717453	Hela-S3	cervix:	n/a	n/a
4	BCL3	chr7:99716517-99717907	A549	lung:	n/a	n/a
5	MAX	chr7:99716671-99717991	NB4	blood:	n/a	n/a
6	TAF1	chr7:99716392-99717873	H1-hESC	embryonic stem cell:	n/a	n/a
7	STAT3	chr7:99717107-99717371	MCF10A-Er-Src	breast:	n/a	n/a
8	PAX5	chr7:99716713-99717395	GM12878	blood:	n/a	n/a
9	MAX	chr7:99716877-99717869	H1-hESC	embryonic stem cell:	n/a	n/a
10	NRF1	chr7:99717037-99717473	K562	blood:	n/a	chr7:99717239-99717253 chr7:99717241-99717252 chr7:99717242-99717251 chr7:99717242-99717256 chr7:99717244-99717253 chr7:99717242-99717253
11	POLR2A	chr7:99716587-99717734	GM12878	blood:	n/a	n/a
12	FOXA1	chr7:99717107-99717303	T-47D	breast:	n/a	n/a
13	POLR2A	chr7:99716728-99717944	K562	blood:	n/a	n/a
14	TAF1	chr7:99716557-99717422	SK-N-SH	brain:	n/a	n/a
15	MXI1	chr7:99716895-99717732	H1-hESC	embryonic stem cell:	n/a	n/a
16	TAF1	chr7:99716555-99717525	HepG2	liver:	n/a	n/a
17	CTCF	chr7:99717179-99717289	Spleen_OC	spleen:	n/a	n/a
18	POLR2A	chr7:99716739-99717378	GM10847	blood:	n/a	n/a
19	HEY1	chr7:99716654-99717631	K562	blood:	n/a	n/a
20	TCF7L2	chr7:99716567-99718223	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr7:99716489-99717627	H1-neurons	neurons:	n/a	n/a
22	MAX	chr7:99716843-99717513	HepG2	liver:	n/a	n/a
23	RCOR1	chr7:99716682-99717940	K562	blood:	n/a	n/a
24	YY1	chr7:99716409-99718234	SK-N-SH	brain:	n/a	chr7:99716958-99716978 chr7:99716960-99716972
25	YY1	chr7:99716525-99717373	K562	blood:	n/a	chr7:99716958-99716978 chr7:99716960-99716972
26	ZNF384	chr7:99716887-99717963	K562	blood:	n/a	n/a
27	MAX	chr7:99716374-99717850	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr7:99716690-99718158	K562	blood:	n/a	n/a
29	SIN3AK20	chr7:99717233-99717783	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr7:99716464-99718102	ECC-1	luminal epithelium:	n/a	n/a
31	MAZ	chr7:99716502-99718177	Hela-S3	cervix:	n/a	n/a
32	MAX	chr7:99716761-99717899	GM12878	blood:	n/a	n/a
33	CTCF	chr7:99716805-99717436	K562	blood:	n/a	n/a
34	MAZ	chr7:99716110-99718692	IMR90	lung:	n/a	n/a
35	MAX	chr7:99716742-99718026	Hela-S3	cervix:	n/a	n/a
36	YY1	chr7:99716492-99717874	ECC-1	luminal epithelium:	n/a	chr7:99716958-99716978 chr7:99716960-99716972
37	STAT3	chr7:99717152-99717352	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr7:99717113-99718119	Hela-S3	cervix:	n/a	n/a
39	MYC	chr7:99717186-99717296	MCF-7	breast:	n/a	n/a
40	SP4	chr7:99716755-99717747	H1-hESC	embryonic stem cell:	n/a	n/a
41	IRF1	chr7:99716608-99717701	K562	blood:	n/a	chr7:99717519-99717533
42	STAT5A	chr7:99716715-99717520	GM12878	blood:	n/a	n/a
43	EP300	chr7:99716835-99717944	K562	blood:	n/a	n/a
44	POLR2A	chr7:99716666-99717547	SK-N-MC	brain:	n/a	n/a
45	MYC	chr7:99716915-99717393	MCF10A-Er-Src	breast:	n/a	n/a
46	RELA	chr7:99716749-99717942	GM19099	blood:	n/a	n/a
47	POLR2A	chr7:99716592-99717878	MCF-7	breast:	n/a	n/a
48	EGR1	chr7:99716665-99717357	K562	blood:	n/a	chr7:99717243-99717252 chr7:99716972-99716986
49	RCOR1	chr7:99716710-99718059	K562	blood:	n/a	n/a
50	YY1	chr7:99716477-99717485	A549	lung:	n/a	chr7:99716958-99716978 chr7:99716960-99716972

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:99717206-99717256	GM12878	blood:	n/a
2	chr7:99717206-99717256	H1-hESC	embryonic stem cell:	embryo
3	chr7:99717206-99717256	HUVEC	blood vessel:	n/a
4	chr7:99717244-99717294	AG04449	skin:	fetal
5	chr7:99717244-99717294	HEEpiC	esophagus:	n/a
6	chr7:99717206-99717256	SAEC	small airway:	n/a
7	chr7:99717206-99717256	SK-N-SH_RA	brain:	n/a
8	chr7:99717206-99717256	AG09319	gingival:	n/a
9	chr7:99717206-99717256	AoSMC	blood vessel:	n/a
10	chr7:99717206-99717256	GM06990	blood:	n/a
11	chr7:99717244-99717294	MCF10A-Er-Src	breast:	n/a
12	chr7:99717206-99717256	Hepatocyte	liver:	n/a
13	chr7:99717206-99717256	HCT-116	colon:	n/a
14	chr7:99717244-99717294	HAEpiC	amniotic membrane:	n/a
15	chr7:99717206-99717256	HEEpiC	esophagus:	n/a
16	chr7:99717206-99717256	HRE	kidney:	n/a
17	chr7:99717244-99717294	SK-N-SH	brain:	n/a
18	chr7:99717244-99717294	ovcar-3	ovarian:	n/a
19	chr7:99717206-99717256	PrEC	prostate:	n/a
20	chr7:99717244-99717294	GM06990	blood:	n/a
21	chr7:99717244-99717294	GM12878	blood:	n/a
22	chr7:99717244-99717294	GM19239	blood:	n/a
23	chr7:99717244-99717294	NH-A	brain:	n/a
24	chr7:99717206-99717256	AG10803	skin:	n/a
25	chr7:99717206-99717256	U87	brain:	n/a
26	chr7:99717244-99717294	A549	lung:	n/a
27	chr7:99717206-99717256	HCPEpiC	choroid plexus:	n/a
28	chr7:99717206-99717256	GM12892	blood:	n/a
29	chr7:99717244-99717294	NHBE	bronchial:	n/a
30	chr7:99717206-99717256	HCF	heart:	n/a
31	chr7:99717244-99717294	AG10803	skin:	n/a
32	chr7:99717244-99717294	GM12892	blood:	n/a
33	chr7:99717206-99717256	BE2_C	brain:	n/a
34	chr7:99717244-99717294	MCF-7	breast:	n/a
35	chr7:99717244-99717294	BE2_C	brain:	n/a
36	chr7:99717244-99717294	LNCaP	prostate:	n/a
37	chr7:99717244-99717294	HCF	heart:	n/a
38	chr7:99717206-99717256	NHDF-neo	bronchial:	n/a
39	chr7:99717206-99717256	RPTEC	kidney:	n/a
40	chr7:99717206-99717256	ovcar-3	ovarian:	n/a
41	chr7:99717206-99717256	HL-60	blood:	n/a
42	chr7:99717244-99717294	HIPEpiC	eye:	n/a
43	chr7:99717244-99717294	HEK293	kidney:	embryo
44	chr7:99717244-99717294	HMEC	breast:	n/a
45	chr7:99717206-99717256	NB4	blood:	n/a
46	chr7:99717244-99717294	ECC-1	luminal epithelium:	n/a
47	chr7:99717244-99717294	K562	blood:	n/a
48	chr7:99717206-99717256	HepG2	liver:	n/a
49	chr7:99717244-99717294	HepG2	liver:	n/a
50	chr7:99717206-99717256	GM12891	blood:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99611884..99615327-chr7:99716112..99720187,5	K562	blood:
2	chr7:99515720..99519605-chr7:99715122..99717935,4	K562	blood:
3	chr7:99717030..99721378-chr7:100025256..100028946,7	MCF-7	breast:
4	chr19:58898029..58898737-chr7:99716663..99717536,2	HCT-116	colon:
5	chr7:99715646..99718646-chr7:99744846..99747972,4	MCF-7	breast:
6	chr7:99715815..99718290-chr7:99932504..99934640,2	MCF-7	breast:
7	chr7:99715831..99718860-chr7:100025422..100028791,5	K562	blood:
8	chr7:99717232..99719759-chr7:99745742..99747993,2	MCF-7	breast:
9	chr12:19592256..19593208-chr7:99716479..99717302,2	NB4	blood:
10	chr7:99717080..99719832-chr7:99772182..99775023,2	MCF-7	breast:
11	chr7:99613754..99615518-chr7:99715679..99717343,2	K562	blood:
12	chr11:62609108..62610617-chr7:99716668..99718265,2	MCF-7	breast:
13	chr7:99715745..99719819-chr7:100025787..100030155,6	K562	blood:
14	chr7:99699099..99699782-chr7:99716678..99717340,2	Hela-S3	cervix:
15	chr7:99715913..99718707-chr7:100032846..100035303,2	MCF-7	breast:

No data

Variant related genes	Relation type
CNPY4	TF binding region
TAF6	TF binding region
CNPY4	CpG island
TAF6	CpG island
ENSG00000139154	Chromatin interaction
ENSG00000083845	Chromatin interaction
ENSG00000242294	Chromatin interaction
ENSG00000106261	Chromatin interaction
ENSG00000241357	Chromatin interaction
ENSG00000146833	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000188186	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000221838	Chromatin interaction
ENSG00000166508	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000272752	Chromatin interaction
ENSG00000266640	Chromatin interaction
ENSG00000121716	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000213420	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1636985	1.00[AMR][1000 genomes]
rs2091445	0.93[AFR][1000 genomes]
rs4134901	1.00[AMR][1000 genomes]
rs4134922	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
5	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
6	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases
7	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
8	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 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	chr7:99715800-99717800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:99715800-99718000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:99716000-99717800	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr7:99716000-99717800	Active TSS	Colonic Mucosa	Colon
5	chr7:99716000-99717800	Active TSS	A549	lung
6	chr7:99716000-99717800	Active TSS	GM12878-XiMat	blood
7	chr7:99716000-99717800	Active TSS	HMEC	breast
8	chr7:99716000-99717800	Active TSS	K562	blood
9	chr7:99716000-99718000	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr7:99716000-99718000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:99716000-99718000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr7:99716000-99718000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:99716000-99718200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:99716000-99718200	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr7:99716000-99718200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr7:99716000-99718200	Active TSS	NHLF	lung
17	chr7:99716000-99718400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:99716000-99718400	Flanking Active TSS	Liver	Liver
19	chr7:99716200-99717400	Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr7:99716200-99717400	Active TSS	Pancreas	Pancrea
21	chr7:99716200-99717400	Active TSS	NHEK	skin
22	chr7:99716200-99717400	Active TSS	Osteobl	bone
23	chr7:99716200-99717800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:99716200-99717800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:99716200-99717800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:99716200-99717800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:99716200-99717800	Active TSS	Brain Angular Gyrus	brain
28	chr7:99716200-99717800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:99716200-99717800	Active TSS	Fetal Kidney	kidney
30	chr7:99716200-99717800	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr7:99716200-99717800	Active TSS	Right Atrium	heart
32	chr7:99716200-99717800	Active TSS	Right Ventricle	heart
33	chr7:99716200-99718000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:99716200-99718000	Active TSS	Left Ventricle	heart
35	chr7:99716200-99718000	Active TSS	Psoas Muscle	Psoas
36	chr7:99716200-99718000	Active TSS	HSMM	muscle
37	chr7:99716200-99718000	Active TSS	NHDF-Ad	bronchial
38	chr7:99716200-99718200	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr7:99716200-99718200	Active TSS	H1 Cell Line	embryonic stem cell
40	chr7:99716200-99718200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:99716200-99718200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:99716200-99718200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:99716200-99718400	Active TSS	H9 Cell Line	embryonic stem cell
44	chr7:99716200-99718400	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr7:99716200-99718600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:99716200-99718600	Flanking Active TSS	Fetal Thymus	thymus
47	chr7:99716400-99717400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:99716400-99717400	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr7:99716400-99717400	Active TSS	Hela-S3	cervix
50	chr7:99716400-99717600	Active TSS	Small Intestine	intestine

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