Variant report

Variant	rs212429
Chromosome Location	chr7:105517719-105517720
allele	G/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	CTCF	chr7:105517580-105517730	HRPEpiC	eye:	n/a	n/a
2	POLR2A	chr7:105517249-105517802	SK-N-MC	brain:	n/a	n/a
3	HDAC2	chr7:105517412-105518111	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:105516696-105517967	HepG2	liver:	n/a	n/a
5	MAZ	chr7:105515967-105518051	IMR90	lung:	n/a	chr7:105516075-105516085
6	CTCF	chr7:105517580-105517730	HEEpiC	esophagus:	n/a	n/a
7	MAX	chr7:105516552-105518120	A549	lung:	n/a	n/a
8	POLR2A	chr7:105516708-105517990	A549	lung:	n/a	n/a
9	ZBTB7A	chr7:105517065-105517921	K562	blood:	n/a	chr7:105517770-105517778
10	CTCF	chr7:105516529-105518431	A549	lung:	n/a	chr7:105517183-105517191 chr7:105517161-105517170 chr7:105517161-105517174
11	HMGN3	chr7:105516526-105518000	K562	blood:	n/a	n/a
12	POLR2A	chr7:105517413-105517965	SK-N-SH	brain:	n/a	n/a
13	ZBTB7A	chr7:105517032-105518082	ECC-1	luminal epithelium:	n/a	chr7:105518037-105518046 chr7:105517770-105517778 chr7:105517924-105517933
14	ZNF263	chr7:105516539-105518531	HEK293-T-REx	kidney:	n/a	chr7:105516799-105516808 chr7:105516796-105516805
15	POLR2A	chr7:105516576-105518053	HepG2	liver:	n/a	n/a
16	CTCF	chr7:105516497-105518709	SK-N-SH	brain:	n/a	chr7:105517183-105517191 chr7:105517161-105517170 chr7:105517161-105517174
17	CREB1	chr7:105516679-105517827	K562	blood:	n/a	n/a
18	MAX	chr7:105517648-105518051	Hela-S3	cervix:	n/a	n/a
19	HNF4G	chr7:105517290-105518125	HepG2	liver:	n/a	chr7:105517833-105517847 chr7:105517833-105517846 chr7:105517832-105517847 chr7:105517834-105517846 chr7:105517832-105517847 chr7:105517834-105517846 chr7:105517832-105517847 chr7:105517832-105517847 chr7:105517831-105517849
20	CTCF	chr7:105517700-105517850	HCM	heart:	n/a	n/a
21	CHD2	chr7:105516882-105517893	HepG2	liver:	n/a	n/a
22	MXI1	chr7:105515339-105518134	IMR90	lung:	n/a	n/a
23	RAD21	chr7:105517582-105518091	H1-hESC	embryonic stem cell:	n/a	n/a
24	ZBTB7A	chr7:105516949-105517968	K562	blood:	n/a	chr7:105517770-105517778 chr7:105517924-105517933
25	MAX	chr7:105516457-105518027	K562	blood:	n/a	n/a
26	RAD21	chr7:105517701-105518137	SK-N-SH_RA	brain:	n/a	n/a
27	POLR2A	chr7:105517699-105517977	HepG2	liver:	n/a	n/a
28	CTCF	chr7:105517620-105517770	HMEC	breast:	n/a	n/a
29	RAD21	chr7:105517715-105518063	H1-hESC	embryonic stem cell:	n/a	n/a
30	HNF4G	chr7:105517436-105518131	HepG2	liver:	n/a	chr7:105517833-105517847 chr7:105517833-105517846 chr7:105517832-105517847 chr7:105517834-105517846 chr7:105517832-105517847 chr7:105517834-105517846 chr7:105517832-105517847 chr7:105517832-105517847 chr7:105517831-105517849
31	POLR2A	chr7:105517629-105518037	HepG2	liver:	n/a	n/a
32	MAX	chr7:105516327-105518096	MCF-7	breast:	n/a	n/a
33	CTCF	chr7:105517680-105517830	HRE	kidney:	n/a	n/a
34	MAZ	chr7:105516537-105518029	Hela-S3	cervix:	n/a	n/a
35	SP1	chr7:105516591-105518060	A549	lung:	n/a	n/a
36	EP300	chr7:105517718-105517993	HepG2	liver:	n/a	n/a
37	POLR2A	chr7:105516641-105517746	HCT-116	colon:	n/a	n/a
38	KAP1	chr7:105517257-105518171	HEK293	kidney:	n/a	n/a
39	BHLHE40	chr7:105516830-105517987	HepG2	liver:	n/a	chr7:105517155-105517171 chr7:105517157-105517173
40	POLR2A	chr7:105516487-105517990	Hela-S3	cervix:	n/a	n/a
41	MYBL2	chr7:105517529-105518118	HepG2	liver:	n/a	n/a
42	HNF4A	chr7:105517047-105518095	HepG2	liver:	n/a	chr7:105517833-105517847 chr7:105517833-105517846 chr7:105517832-105517847 chr7:105517834-105517846 chr7:105517832-105517847 chr7:105517834-105517846 chr7:105517832-105517847 chr7:105517832-105517847 chr7:105517831-105517849 chr7:105517832-105517847
43	HEY1	chr7:105517509-105518118	HepG2	liver:	n/a	n/a
44	RAD21	chr7:105517715-105518051	HepG2	liver:	n/a	n/a
45	SMARCB1	chr7:105516459-105517981	Hela-S3	cervix:	n/a	n/a
46	MAX	chr7:105516568-105518104	ECC-1	luminal epithelium:	n/a	n/a
47	MAX	chr7:105517678-105517850	K562	blood:	n/a	n/a
48	E2F6	chr7:105516803-105517994	K562	blood:	n/a	chr7:105516839-105516847
49	ZBTB7A	chr7:105516929-105518130	ECC-1	luminal epithelium:	n/a	chr7:105518037-105518046 chr7:105517770-105517778 chr7:105517924-105517933
50	POLR2A	chr7:105516372-105517940	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:105517689-105517739	NHDF-neo	bronchial:	n/a
2	chr7:105517689-105517739	HCPEpiC	choroid plexus:	n/a
3	chr7:105517689-105517739	MCF-7	breast:	n/a
4	chr7:105517689-105517739	CMK	blood:	n/a
5	chr7:105517689-105517739	ECC-1	luminal epithelium:	n/a
6	chr7:105517689-105517739	A549	lung:	n/a
7	chr7:105517689-105517739	SK-N-SH_RA	brain:	n/a
8	chr7:105517689-105517739	HEK293	kidney:	embryo
9	chr7:105517689-105517739	NH-A	brain:	n/a
10	chr7:105517689-105517739	HCM	heart:	n/a
11	chr7:105517689-105517739	SKMC	muscle:	n/a
12	chr7:105517689-105517739	HL-60	blood:	n/a
13	chr7:105517689-105517739	GM12892	blood:	n/a
14	chr7:105517689-105517739	HNPCEpiC	eye:	n/a
15	chr7:105517689-105517739	GM06990	blood:	n/a
16	chr7:105517689-105517739	HMEC	breast:	n/a
17	chr7:105517689-105517739	Caco-2	colon:	n/a
18	chr7:105517689-105517739	NT2-D1	testis:	n/a
19	chr7:105517689-105517739	PrEC	prostate:	n/a
20	chr7:105517689-105517739	K562	blood:	n/a
21	chr7:105517689-105517739	PFSK-1	brain:	n/a
22	chr7:105517689-105517739	NHBE	bronchial:	n/a
23	chr7:105517689-105517739	SK-N-SH	brain:	n/a
24	chr7:105517689-105517739	HEEpiC	esophagus:	n/a
25	chr7:105517689-105517739	T-47D	breast:	n/a
26	chr7:105517689-105517739	SK-N-MC	brain:	n/a
27	chr7:105517689-105517739	ProgFib	skin:	n/a
28	chr7:105517689-105517739	AG09309	skin:	n/a
29	chr7:105517689-105517739	AoSMC	blood vessel:	n/a
30	chr7:105517689-105517739	H1-hESC	embryonic stem cell:	embryo
31	chr7:105517689-105517739	BE2_C	brain:	n/a
32	chr7:105517689-105517739	ovcar-3	ovarian:	n/a
33	chr7:105517689-105517739	PANC-1	pancreas:	n/a
34	chr7:105517689-105517739	AG04450	lung:	fetal
35	chr7:105517689-105517739	IMR90	lung:	fetal
36	chr7:105517689-105517739	GM12878	blood:	n/a
37	chr7:105517689-105517739	Jurkat	blood:	n/a
38	chr7:105517689-105517739	RPTEC	kidney:	n/a
39	chr7:105517689-105517739	HCT-116	colon:	n/a
40	chr7:105517689-105517739	HCF	heart:	n/a
41	chr7:105517689-105517739	Hela-S3	cervix:	n/a
42	chr7:105517689-105517739	U87	brain:	n/a
43	chr7:105517689-105517739	AG09319	gingival:	n/a
44	chr7:105517689-105517739	HRCEpiC	kidney:	n/a
45	chr7:105517689-105517739	HUVEC	blood vessel:	n/a
46	chr7:105517689-105517739	BJ	skin:	n/a
47	chr7:105517689-105517739	HRPEpiC	eye:	n/a
48	chr7:105517689-105517739	AG04449	skin:	fetal
49	chr7:105517689-105517739	SAEC	small airway:	n/a
50	chr7:105517689-105517739	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:105516810..105518543-chr7:105750750..105753587,2	K562	blood:
2	chr7:105171193..105173393-chr7:105516904..105519168,2	K562	blood:
3	chr7:102715242..102717974-chr7:105515259..105517980,2	MCF-7	breast:

Variant related genes	Relation type
ATXN7L1	TF binding region
ATXN7L1	CpG island
ENSG00000170632	Chromatin interaction
ENSG00000161040	Chromatin interaction
ENSG00000008282	Chromatin interaction
ENSG00000135249	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs142752	1.00[ASW][hapmap];0.85[CEU][hapmap];0.94[LWK][hapmap];0.85[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212427	1.00[CEU][hapmap];1.00[MEX][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212430	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212434	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212440	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212441	1.00[CEU][hapmap]
rs212442	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212443	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212444	1.00[CEU][hapmap]
rs575979	1.00[ASN][1000 genomes]
rs594181	1.00[ASN][1000 genomes]
rs6977858	1.00[YRI][hapmap]

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	nsv1027213	chr7:105438610-106022869	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv464669	chr7:105504201-105533735	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv608070	chr7:105504201-105533735	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr7:105515600-105519600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:105515800-105518000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:105515800-105518200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr7:105515800-105518600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:105515800-105518800	Active TSS	Brain Angular Gyrus	brain
6	chr7:105516000-105517800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:105516000-105517800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:105516000-105517800	Active TSS	Duodenum Mucosa	Duodenum
9	chr7:105516000-105517800	Active TSS	HSMM	muscle
10	chr7:105516000-105518000	Active TSS	Brain Anterior Caudate	brain
11	chr7:105516000-105518000	Active TSS	HSMMtube	muscle
12	chr7:105516000-105518200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:105516000-105518200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:105516000-105518200	Active TSS	Muscle Satellite Cultured Cells	--
15	chr7:105516000-105518200	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr7:105516000-105518200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:105516000-105518200	Active TSS	Fetal Intestine Large	intestine
18	chr7:105516000-105518200	Active TSS	Fetal Intestine Small	intestine
19	chr7:105516000-105518200	Active TSS	Fetal Lung	lung
20	chr7:105516000-105518200	Active TSS	A549	lung
21	chr7:105516000-105518400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:105516000-105518400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:105516000-105518400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:105516000-105518400	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr7:105516000-105518600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:105516000-105518600	Active TSS	Colonic Mucosa	Colon
27	chr7:105516000-105518600	Active TSS	Fetal Kidney	kidney
28	chr7:105516000-105518600	Active TSS	NHDF-Ad	bronchial
29	chr7:105516000-105518800	Active TSS	Colon Smooth Muscle	Colon
30	chr7:105516000-105518800	Active TSS	Stomach Smooth Muscle	stomach
31	chr7:105516000-105519000	Active TSS	NHLF	lung
32	chr7:105516000-105519200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:105516000-105519400	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr7:105516000-105519600	Active TSS	Rectal Smooth Muscle	rectum
35	chr7:105516200-105517800	Active TSS	Brain Substantia Nigra	brain
36	chr7:105516200-105517800	Active TSS	Placenta Amnion	Placenta Amnion
37	chr7:105516200-105518200	Active TSS	Ovary	ovary
38	chr7:105516200-105518200	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr7:105516200-105518200	Active TSS	Right Ventricle	heart
40	chr7:105516200-105518400	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr7:105516200-105518400	Active TSS	Psoas Muscle	Psoas
42	chr7:105516200-105518800	Active TSS	Stomach Mucosa	stomach
43	chr7:105516200-105518800	Active TSS	Osteobl	bone
44	chr7:105516400-105517800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:105516400-105517800	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr7:105516400-105517800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr7:105516400-105517800	Active TSS	Pancreas	Pancrea
48	chr7:105516400-105517800	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr7:105516400-105517800	Active TSS	NHEK	skin
50	chr7:105516400-105518000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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