Variant report

Variant	rs9986768
Chromosome Location	chr7:21466395-21466396
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	WRNIP1	chr7:21466289-21466489	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:21466307-21468243	K562	blood:	n/a	n/a
3	MYC	chr7:21465887-21468372	K562	blood:	n/a	chr7:21467795-21467805 chr7:21467204-21467213 chr7:21466884-21466894
4	MAZ	chr7:21466016-21468764	IMR90	lung:	n/a	chr7:21467795-21467805 chr7:21468598-21468607 chr7:21467204-21467213 chr7:21466884-21466894
5	POLR2A	chr7:21466369-21468382	K562	blood:	n/a	n/a
6	E2F6	chr7:21466140-21468479	K562	blood:	n/a	chr7:21466699-21466708 chr7:21466951-21466963 chr7:21467151-21467161 chr7:21466676-21466685
7	E2F4	chr7:21466355-21468044	MCF10A-Er-Src	breast:	n/a	chr7:21466699-21466708 chr7:21466951-21466963 chr7:21467151-21467161 chr7:21466676-21466685
8	JUND	chr7:21466074-21468321	K562	blood:	n/a	chr7:21467775-21467784 chr7:21466700-21466709
9	MXI1	chr7:21465834-21468446	IMR90	lung:	n/a	n/a
10	GTF2F1	chr7:21466295-21467468	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr7:21465807-21466484	Hela-S3	cervix:	n/a	chr7:21466072-21466083 chr7:21466006-21466017 chr7:21466007-21466018 chr7:21466006-21466017
12	MYC	chr7:21465867-21468340	K562	blood:	n/a	chr7:21467795-21467805 chr7:21467204-21467213 chr7:21466884-21466894
13	SIN3AK20	chr7:21465854-21468499	MCF-7	breast:	n/a	n/a
14	POLR2A	chr7:21466162-21468469	GM12891	blood:	n/a	n/a
15	MXI1	chr7:21466294-21468351	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:21465782-21468620	H1-hESC	embryonic stem cell:	n/a	n/a
17	SMARCC1	chr7:21466145-21468697	Hela-S3	cervix:	n/a	n/a
18	ZNF263	chr7:21466349-21467721	HEK293-T-REx	kidney:	n/a	chr7:21466842-21466863 chr7:21466853-21466862 chr7:21467418-21467427
19	CTCF	chr7:21466260-21466410	GM12875	blood:	n/a	n/a
20	TBL1XR1	chr7:21466260-21468361	GM12878	blood:	n/a	n/a
21	HA-E2F1	chr7:21466028-21467834	MCF-7	breast:	n/a	chr7:21466699-21466708 chr7:21466951-21466963 chr7:21467151-21467161 chr7:21466676-21466685
22	RAD21	chr7:21465986-21467173	H1-hESC	embryonic stem cell:	n/a	chr7:21466890-21466904 chr7:21466530-21466543
23	TBP	chr7:21466272-21468988	K562	blood:	n/a	n/a
24	IRF1	chr7:21466314-21467678	K562	blood:	n/a	chr7:21466887-21466901 chr7:21466556-21466570 chr7:21466695-21466709 chr7:21467077-21467086
25	MXI1	chr7:21465714-21469527	SK-N-SH	brain:	n/a	n/a
26	MAX	chr7:21466286-21467628	ECC-1	luminal epithelium:	n/a	chr7:21467204-21467213 chr7:21466884-21466894
27	MTA3	chr7:21466257-21468159	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:21466273-21468342	K562	blood:	n/a	n/a
29	SREBP1	chr7:21465827-21468943	GM12878	blood:	n/a	chr7:21468076-21468090
30	SIN3A	chr7:21465913-21468854	H1-hESC	embryonic stem cell:	n/a	chr7:21466758-21466771
31	MAX	chr7:21466162-21468296	K562	blood:	n/a	chr7:21467795-21467805 chr7:21467204-21467213 chr7:21466884-21466894
32	EGR1	chr7:21466325-21468272	K562	blood:	n/a	chr7:21466906-21466919 chr7:21467151-21467161 chr7:21467314-21467327 chr7:21466946-21466959 chr7:21467202-21467215 chr7:21467487-21467497 chr7:21467809-21467822 chr7:21467803-21467816 chr7:21466782-21466792 chr7:21467803-21467813
33	MAX	chr7:21466375-21468542	A549	lung:	n/a	chr7:21467795-21467805 chr7:21467204-21467213 chr7:21466884-21466894
34	CEBPB	chr7:21465895-21466531	K562	blood:	n/a	chr7:21466072-21466083 chr7:21466006-21466017 chr7:21466007-21466018 chr7:21466006-21466017
35	MYC	chr7:21465856-21468334	NB4	blood:	n/a	chr7:21467795-21467805 chr7:21467204-21467213 chr7:21466884-21466894
36	POLR2A	chr7:21466262-21468411	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr7:21465993-21468392	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr7:21466143-21468237	HepG2	liver:	n/a	n/a
39	EP300	chr7:21465970-21468527	K562	blood:	n/a	chr7:21467487-21467503 chr7:21466907-21466923 chr7:21466715-21466724 chr7:21466807-21466823
40	ZNF143	chr7:21466323-21467459	Hela-S3	cervix:	n/a	chr7:21466904-21466914 chr7:21466714-21466724
41	RCOR1	chr7:21465918-21466834	K562	blood:	n/a	n/a
42	REST	chr7:21465727-21468630	H1-neurons	neurons:	n/a	chr7:21466760-21466770 chr7:21467482-21467492
43	HDAC2	chr7:21466383-21467394	MCF-7	breast:	n/a	chr7:21466444-21466453
44	TCF12	chr7:21466337-21467578	A549	lung:	n/a	n/a
45	POLR2A	chr7:21466337-21468361	H1-hESC	embryonic stem cell:	n/a	n/a
46	ETS1	chr7:21466341-21467790	K562	blood:	n/a	chr7:21466715-21466726 chr7:21466712-21466723 chr7:21467488-21467499 chr7:21466905-21466916 chr7:21467151-21467162
47	RCOR1	chr7:21465988-21468355	K562	blood:	n/a	n/a
48	POLR2A	chr7:21466093-21468294	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr7:21466252-21468398	K562	blood:	n/a	n/a
50	UBTF	chr7:21466289-21468262	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:21466380-21466430	BJ	skin:	n/a
2	chr7:21466380-21466430	Hela-S3	cervix:	n/a
3	chr7:21466380-21466430	HMEC	breast:	n/a
4	chr7:21466380-21466430	HCM	heart:	n/a
5	chr7:21466380-21466430	MCF-7	breast:	n/a
6	chr7:21466380-21466430	NB4	blood:	n/a
7	chr7:21466380-21466430	Jurkat	blood:	n/a
8	chr7:21466380-21466430	HL-60	blood:	n/a
9	chr7:21466380-21466430	Caco-2	colon:	n/a
10	chr7:21466380-21466430	BE2_C	brain:	n/a
11	chr7:21466380-21466430	T-47D	breast:	n/a
12	chr7:21466380-21466430	HepG2	liver:	n/a
13	chr7:21466380-21466430	CMK	blood:	n/a
14	chr7:21466380-21466430	K562	blood:	n/a
15	chr7:21466380-21466430	GM12878	blood:	n/a
16	chr7:21466380-21466430	HEEpiC	esophagus:	n/a
17	chr7:21466380-21466430	HIPEpiC	eye:	n/a
18	chr7:21466380-21466430	SK-N-MC	brain:	n/a
19	chr7:21466380-21466430	SK-N-SH	brain:	n/a
20	chr7:21466380-21466430	NHBE	bronchial:	n/a
21	chr7:21466380-21466430	IMR90	lung:	fetal
22	chr7:21466380-21466430	PANC-1	pancreas:	n/a
23	chr7:21466380-21466430	A549	lung:	n/a
24	chr7:21466380-21466430	ECC-1	luminal epithelium:	n/a
25	chr7:21466380-21466430	AG04449	skin:	fetal
26	chr7:21466380-21466430	AoSMC	blood vessel:	n/a
27	chr7:21466380-21466430	PrEC	prostate:	n/a
28	chr7:21466380-21466430	NH-A	brain:	n/a
29	chr7:21466380-21466430	GM12891	blood:	n/a
30	chr7:21466380-21466430	GM12892	blood:	n/a
31	chr7:21466380-21466430	HPAEpiC	pulmonary alveolar:	n/a
32	chr7:21466380-21466430	HNPCEpiC	eye:	n/a
33	chr7:21466380-21466430	HAEpiC	amniotic membrane:	n/a
34	chr7:21466380-21466430	NT2-D1	testis:	n/a
35	chr7:21466380-21466430	H1-hESC	embryonic stem cell:	embryo
36	chr7:21466380-21466430	PFSK-1	brain:	n/a
37	chr7:21466380-21466430	Hepatocyte	liver:	n/a
38	chr7:21466380-21466430	GM06990	blood:	n/a
39	chr7:21466380-21466430	ovcar-3	ovarian:	n/a
40	chr7:21466380-21466430	AG10803	skin:	n/a
41	chr7:21466380-21466430	SKMC	muscle:	n/a
42	chr7:21466380-21466430	HRCEpiC	kidney:	n/a
43	chr7:21466380-21466430	MCF10A-Er-Src	breast:	n/a
44	chr7:21466380-21466430	LNCaP	prostate:	n/a
45	chr7:21466380-21466430	SAEC	small airway:	n/a
46	chr7:21466380-21466430	HRPEpiC	eye:	n/a
47	chr7:21466380-21466430	AG09309	skin:	n/a
48	chr7:21466380-21466430	SK-N-SH_RA	brain:	n/a
49	chr7:21466380-21466430	RPTEC	kidney:	n/a
50	chr7:21466380-21466430	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:21464777..21466947-chr7:21524501..21526981,2	K562	blood:
2	chr17:56405577..56408427-chr7:21466025..21468331,2	K562	blood:
3	chr7:21464898..21467027-chr7:21551635..21554348,2	K562	blood:
4	chr7:21457297..21459826-chr7:21464740..21467437,4	MCF-7	breast:
5	chr7:21465232..21467333-chr7:21480661..21482272,2	K562	blood:
6	chr7:21455977..21463086-chr7:21463443..21469885,12	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDCA7L-2	chr7:21466127-21466535	NONHSAT119446

Variant related genes	Relation type
ENSG00000266862	TF binding region
SP4	TF binding region
ENSG00000266862	CpG island
SP4	CpG island
ENSG00000265148	Chromatin interaction
ENSG00000005379	Chromatin interaction
ENSG00000266862	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10231964	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2390536	0.83[LWK][hapmap]
rs28397137	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73263771	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73263793	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9986768	NPVF	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21465400-21466400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:21465800-21466400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr7:21465800-21466400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:21465800-21466400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:21465800-21466400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:21465800-21466600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:21465800-21466600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr7:21465800-21466600	Flanking Active TSS	K562	blood
9	chr7:21465800-21466600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr7:21466000-21466400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
11	chr7:21466000-21466400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:21466000-21466400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr7:21466000-21466400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:21466000-21466400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr7:21466000-21466400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:21466000-21466400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:21466000-21466400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:21466000-21466400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:21466000-21466400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:21466000-21466400	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr7:21466000-21466400	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr7:21466000-21466400	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr7:21466000-21466400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr7:21466000-21466400	Flanking Active TSS	Brain Substantia Nigra	brain
25	chr7:21466000-21466400	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr7:21466000-21466400	Enhancers	Esophagus	oesophagus
27	chr7:21466000-21466400	Flanking Active TSS	Fetal Kidney	kidney
28	chr7:21466000-21466400	Enhancers	Lung	lung
29	chr7:21466000-21466400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr7:21466000-21466400	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr7:21466000-21466400	Flanking Active TSS	Right Ventricle	heart
32	chr7:21466000-21466400	Enhancers	Spleen	Spleen
33	chr7:21466000-21466400	Flanking Active TSS	A549	lung
34	chr7:21466000-21466400	Flanking Active TSS	HepG2	liver
35	chr7:21466000-21466400	Flanking Active TSS	NHDF-Ad	bronchial
36	chr7:21466000-21466600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:21466000-21466600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
38	chr7:21466000-21466600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:21466000-21466600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:21466000-21466600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr7:21466000-21466600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:21466000-21466600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr7:21466000-21466600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr7:21466000-21466600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr7:21466000-21466600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:21466000-21466600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:21466000-21466600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:21466000-21466600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr7:21466000-21466600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:21466000-21466600	Flanking Active TSS	Duodenum Mucosa	Duodenum

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