Variant report

Variant	rs6968854
Chromosome Location	chr7:7034807-7034808
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:7034328-7034847	H1-hESC	embryonic stem cell:	n/a	n/a
2	NR2F2	chr7:7034464-7034901	K562	blood:	n/a	n/a
3	NR2F2	chr7:7034523-7035648	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:7034759-7034809	PFSK-1	brain:	n/a
2	chr7:7034759-7034809	Hepatocyte	liver:	n/a
3	chr7:7034759-7034809	HRCEpiC	kidney:	n/a
4	chr7:7034759-7034809	HCPEpiC	choroid plexus:	n/a
5	chr7:7034759-7034809	AG04450	lung:	fetal
6	chr7:7034759-7034809	HAEpiC	amniotic membrane:	n/a
7	chr7:7034759-7034809	PANC-1	pancreas:	n/a
8	chr7:7034759-7034809	HPAEpiC	pulmonary alveolar:	n/a
9	chr7:7034759-7034809	A549	lung:	n/a
10	chr7:7034759-7034809	NT2-D1	testis:	n/a
11	chr7:7034759-7034809	ovcar-3	ovarian:	n/a
12	chr7:7034759-7034809	MCF-7	breast:	n/a
13	chr7:7034759-7034809	MCF10A-Er-Src	breast:	n/a
14	chr7:7034759-7034809	GM12891	blood:	n/a
15	chr7:7034759-7034809	HRE	kidney:	n/a
16	chr7:7034759-7034809	SK-N-SH_RA	brain:	n/a
17	chr7:7034759-7034809	HL-60	blood:	n/a
18	chr7:7034759-7034809	HCT-116	colon:	n/a
19	chr7:7034759-7034809	HEEpiC	esophagus:	n/a
20	chr7:7034759-7034809	HUVEC	blood vessel:	n/a
21	chr7:7034759-7034809	AoSMC	blood vessel:	n/a
22	chr7:7034759-7034809	CMK	blood:	n/a
23	chr7:7034759-7034809	HepG2	liver:	n/a
24	chr7:7034759-7034809	GM19239	blood:	n/a
25	chr7:7034759-7034809	PrEC	prostate:	n/a
26	chr7:7034759-7034809	BE2_C	brain:	n/a
27	chr7:7034759-7034809	Jurkat	blood:	n/a
28	chr7:7034759-7034809	H1-hESC	embryonic stem cell:	embryo
29	chr7:7034759-7034809	T-47D	breast:	n/a
30	chr7:7034759-7034809	U87	brain:	n/a
31	chr7:7034759-7034809	AG10803	skin:	n/a
32	chr7:7034759-7034809	NHDF-neo	bronchial:	n/a
33	chr7:7034759-7034809	Hela-S3	cervix:	n/a
34	chr7:7034759-7034809	Caco-2	colon:	n/a
35	chr7:7034759-7034809	SK-N-SH	brain:	n/a
36	chr7:7034759-7034809	IMR90	lung:	fetal
37	chr7:7034759-7034809	NH-A	brain:	n/a
38	chr7:7034759-7034809	HCM	heart:	n/a
39	chr7:7034759-7034809	LNCaP	prostate:	n/a
40	chr7:7034759-7034809	ECC-1	luminal epithelium:	n/a
41	chr7:7034759-7034809	SKMC	muscle:	n/a
42	chr7:7034759-7034809	SAEC	small airway:	n/a
43	chr7:7034759-7034809	ProgFib	skin:	n/a
44	chr7:7034759-7034809	NB4	blood:	n/a
45	chr7:7034759-7034809	AG04449	skin:	fetal
46	chr7:7034759-7034809	GM06990	blood:	n/a
47	chr7:7034759-7034809	RPTEC	kidney:	n/a
48	chr7:7034759-7034809	GM12878	blood:	n/a
49	chr7:7034759-7034809	K562	blood:	n/a
50	chr7:7034759-7034809	HRPEpiC	eye:	n/a

No data

Variant related genes	Relation type
ENSG00000221011	TF binding region
ENSG00000221011	CpG island

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11983243	0.82[AMR][1000 genomes]
rs4074748	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4074749	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4074750	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6463624	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6463625	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6463626	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6463628	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7805919	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv887457	chr7:6820508-7163442	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv887461	chr7:6832265-7163442	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1022295	chr7:6854098-7171376	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
5	nsv1021638	chr7:6854098-7188086	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv469900	chr7:6870634-7141565	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1034881	chr7:6882240-7040907	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv981431	chr7:6899796-7040440	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv869091	chr7:6927461-7567820	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription 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	49 gene(s)	inside rSNPs	diseases
11	nsv428160	chr7:6936949-7219553	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
12	nsv1020929	chr7:6954959-7232920	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats 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	39 gene(s)	inside rSNPs	diseases
13	nsv1031339	chr7:6990866-7098418	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
15	nsv1023662	chr7:7001595-7145831	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
16	nsv1022306	chr7:7001595-7149989	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
17	esv2761153	chr7:7001607-7190803	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
18	nsv887464	chr7:7019281-7141137	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
19	nsv606029	chr7:7021042-7081413	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7031400-7035600	Weak transcription	Left Ventricle	heart
2	chr7:7032400-7051800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:7033400-7035000	Enhancers	K562	blood
4	chr7:7033600-7038600	Weak transcription	Fetal Intestine Small	intestine
5	chr7:7034200-7035600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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