Variant report

Variant	rs6948448
Chromosome Location	chr7:7606606-7606607
allele	C/G
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	ZBTB7A	chr7:7606331-7606828	K562	blood:	n/a	n/a
2	POLR2A	chr7:7606258-7606829	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:7606229-7607087	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr7:7606188-7606864	HUVEC	blood vessel:	n/a	n/a
5	TAF1	chr7:7606325-7606857	A549	lung:	n/a	n/a
6	POLR2A	chr7:7606070-7606975	PFSK-1	brain:	n/a	n/a
7	YY1	chr7:7606465-7606690	K562	blood:	n/a	chr7:7606613-7606623 chr7:7606613-7606635 chr7:7606642-7606656 chr7:7606614-7606622 chr7:7606616-7606624 chr7:7606611-7606630 chr7:7606642-7606653
8	TAF1	chr7:7606284-7607104	HepG2	liver:	n/a	n/a
9	ELK1	chr7:7606246-7606739	GM12878	blood:	n/a	n/a
10	POU2F2	chr7:7606216-7606766	GM12891	blood:	n/a	chr7:7606250-7606271 chr7:7606642-7606654
11	MAX	chr7:7606255-7607071	K562	blood:	n/a	n/a
12	MYC	chr7:7606202-7607652	K562	blood:	n/a	n/a
13	POU2F2	chr7:7606367-7606896	GM12891	blood:	n/a	chr7:7606642-7606654
14	POLR2A	chr7:7606274-7607129	HepG2	liver:	n/a	n/a
15	POLR2A	chr7:7606098-7606643	HepG2	liver:	n/a	n/a
16	POLR2A	chr7:7606180-7607287	GM15510	blood:	n/a	n/a
17	POLR2A	chr7:7606336-7607227	H1-neurons	neurons:	n/a	n/a
18	BHLHE40	chr7:7606292-7606780	HepG2	liver:	n/a	chr7:7606640-7606656
19	POLR2A	chr7:7606007-7607182	Hela-S3	cervix:	n/a	n/a
20	TEAD4	chr7:7606392-7606726	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr7:7606271-7607184	GM12891	blood:	n/a	n/a
22	TBL1XR1	chr7:7606515-7606767	K562	blood:	n/a	n/a
23	YY1	chr7:7606195-7607108	GM12878	blood:	n/a	chr7:7606745-7606754 chr7:7606431-7606445 chr7:7606746-7606760 chr7:7606613-7606623 chr7:7606880-7606891 chr7:7606613-7606635 chr7:7606745-7606756 chr7:7606642-7606656 chr7:7606614-7606622 chr7:7606616-7606624 chr7:7606611-7606630 chr7:7606642-7606653
24	MXI1	chr7:7606284-7609622	GM12878	blood:	n/a	n/a
25	SP1	chr7:7606284-7606739	GM12878	blood:	n/a	chr7:7606433-7606445 chr7:7606487-7606499 chr7:7606458-7606467 chr7:7606458-7606468 chr7:7606651-7606660 chr7:7606644-7606656 chr7:7606459-7606468 chr7:7606644-7606656 chr7:7606646-7606655 chr7:7606430-7606444 chr7:7606484-7606498 chr7:7606489-7606498 chr7:7606457-7606469 chr7:7606487-7606499 chr7:7606458-7606467 chr7:7606457-7606469
26	POLR2A	chr7:7606180-7609855	GM12892	blood:	n/a	n/a
27	POLR2A	chr7:7606236-7607115	K562	blood:	n/a	n/a
28	CTCF	chr7:7606539-7606617	Fibrobl	skin:	n/a	n/a
29	FOXM1	chr7:7606182-7606802	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:7606387-7606809	K562	blood:	n/a	n/a
31	POLR2A	chr7:7606291-7607003	Gliobla	brain:	n/a	n/a
32	POLR2A	chr7:7606228-7607139	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr7:7606215-7606864	K562	blood:	n/a	n/a
34	TAF1	chr7:7606257-7607056	SK-N-SH	brain:	n/a	n/a
35	RELA	chr7:7606037-7606741	GM19193	blood:	n/a	n/a
36	CTCF	chr7:7606450-7606609	K562	blood:	n/a	n/a
37	TAF1	chr7:7606353-7606757	GM12891	blood:	n/a	n/a
38	TBL1XR1	chr7:7606411-7607424	GM12878	blood:	n/a	n/a
39	TCF12	chr7:7606087-7607097	ECC-1	luminal epithelium:	n/a	n/a
40	YY1	chr7:7606089-7607374	SK-N-SH	brain:	n/a	chr7:7606745-7606754 chr7:7606431-7606445 chr7:7606746-7606760 chr7:7606613-7606623 chr7:7606880-7606891 chr7:7606613-7606635 chr7:7606745-7606756 chr7:7606642-7606656 chr7:7606614-7606622 chr7:7606616-7606624 chr7:7606611-7606630 chr7:7606642-7606653
41	YY1	chr7:7606400-7606781	GM12892	blood:	n/a	chr7:7606745-7606754 chr7:7606431-7606445 chr7:7606746-7606760 chr7:7606613-7606623 chr7:7606613-7606635 chr7:7606745-7606756 chr7:7606642-7606656 chr7:7606614-7606622 chr7:7606616-7606624 chr7:7606611-7606630 chr7:7606642-7606653
42	ELF1	chr7:7606226-7606872	HepG2	liver:	n/a	chr7:7606746-7606758 chr7:7606680-7606692 chr7:7606665-7606674 chr7:7606747-7606759 chr7:7606639-7606651 chr7:7606642-7606654
43	SMARCC1	chr7:7605797-7607113	Hela-S3	cervix:	n/a	n/a
44	USF2	chr7:7606438-7607265	GM12878	blood:	n/a	chr7:7606640-7606656 chr7:7606873-7606889
45	RCOR1	chr7:7606356-7606802	HepG2	liver:	n/a	n/a
46	MAX	chr7:7606262-7607520	K562	blood:	n/a	n/a
47	E2F6	chr7:7606397-7607051	K562	blood:	n/a	chr7:7606877-7606887 chr7:7606645-7606654
48	POLR2A	chr7:7606198-7607092	K562	blood:	n/a	n/a
49	JUND	chr7:7606228-7607381	K562	blood:	n/a	chr7:7606644-7606653
50	UBTF	chr7:7606331-7607149	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:7606596-7606646	BE2_C	brain:	n/a
2	chr7:7606596-7606646	NT2-D1	testis:	n/a
3	chr7:7606596-7606646	T-47D	breast:	n/a
4	chr7:7606601-7606651	HAEpiC	amniotic membrane:	n/a
5	chr7:7606601-7606651	GM12878	blood:	n/a
6	chr7:7606601-7606651	GM12892	blood:	n/a
7	chr7:7606601-7606651	HCPEpiC	choroid plexus:	n/a
8	chr7:7606596-7606646	AoSMC	blood vessel:	n/a
9	chr7:7606596-7606646	IMR90	lung:	fetal
10	chr7:7606601-7606651	ovcar-3	ovarian:	n/a
11	chr7:7606596-7606646	Jurkat	blood:	n/a
12	chr7:7606601-7606651	BJ	skin:	n/a
13	chr7:7606601-7606651	SAEC	small airway:	n/a
14	chr7:7606601-7606651	NT2-D1	testis:	n/a
15	chr7:7606601-7606651	HRPEpiC	eye:	n/a
16	chr7:7606596-7606646	NB4	blood:	n/a
17	chr7:7606596-7606646	HCM	heart:	n/a
18	chr7:7606601-7606651	SK-N-SH_RA	brain:	n/a
19	chr7:7606601-7606651	HCM	heart:	n/a
20	chr7:7606601-7606651	PFSK-1	brain:	n/a
21	chr7:7606596-7606646	HEK293	kidney:	embryo
22	chr7:7606596-7606646	HRCEpiC	kidney:	n/a
23	chr7:7606601-7606651	HUVEC	blood vessel:	n/a
24	chr7:7606596-7606646	GM12892	blood:	n/a
25	chr7:7606596-7606646	HCF	heart:	n/a
26	chr7:7606601-7606651	AoSMC	blood vessel:	n/a
27	chr7:7606596-7606646	K562	blood:	n/a
28	chr7:7606596-7606646	AG09319	gingival:	n/a
29	chr7:7606601-7606651	LNCaP	prostate:	n/a
30	chr7:7606601-7606651	Jurkat	blood:	n/a
31	chr7:7606596-7606646	Hela-S3	cervix:	n/a
32	chr7:7606601-7606651	HCF	heart:	n/a
33	chr7:7606596-7606646	HRE	kidney:	n/a
34	chr7:7606601-7606651	ECC-1	luminal epithelium:	n/a
35	chr7:7606601-7606651	NB4	blood:	n/a
36	chr7:7606601-7606651	SK-N-MC	brain:	n/a
37	chr7:7606596-7606646	GM19239	blood:	n/a
38	chr7:7606596-7606646	RPTEC	kidney:	n/a
39	chr7:7606596-7606646	ovcar-3	ovarian:	n/a
40	chr7:7606596-7606646	GM06990	blood:	n/a
41	chr7:7606601-7606651	PrEC	prostate:	n/a
42	chr7:7606601-7606651	CMK	blood:	n/a
43	chr7:7606596-7606646	GM12891	blood:	n/a
44	chr7:7606601-7606651	HRCEpiC	kidney:	n/a
45	chr7:7606601-7606651	SKMC	muscle:	n/a
46	chr7:7606601-7606651	K562	blood:	n/a
47	chr7:7606601-7606651	HEK293	kidney:	embryo
48	chr7:7606596-7606646	HEEpiC	esophagus:	n/a
49	chr7:7606596-7606646	U87	brain:	n/a
50	chr7:7606601-7606651	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:7605830..7608267-chr7:7679102..7681869,5	MCF-7	breast:
2	chr19:38863925..38865445-chr7:7605772..7607416,2	MCF-7	breast:
3	chr7:7603096..7605323-chr7:7605419..7606942,2	MCF-7	breast:
4	chr7:7220424..7222400-chr7:7606398..7608085,2	K562	blood:
5	chr7:7604819..7606875-chr7:8300807..8302647,2	MCF-7	breast:
6	chr7:7588099..7594648-chr7:7604621..7611487,9	MCF-7	breast:
7	chr7:7605040..7608458-chr7:7677009..7681661,8	K562	blood:
8	chr7:7588174..7592470-chr7:7605427..7608009,3	MCF-7	breast:
9	chr7:7221023..7222531-chr7:7605504..7608100,2	MCF-7	breast:
10	chr7:7605958..7609334-chr7:7621457..7626452,6	MCF-7	breast:
11	chr7:7220051..7223731-chr7:7605300..7608795,5	K562	blood:
12	chr7:7602250..7604116-chr7:7605056..7607098,3	K562	blood:
13	chr7:7603046..7608569-chr7:7677123..7682101,8	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL28A1-1	chr7:7605545-7606627	ENSG00000272894.1

Variant related genes	Relation type
ENSG00000272894	TF binding region
MIOS	TF binding region
MIOS	CpG island
ENSG00000272894	CpG island
ENSG00000003147	Chromatin interaction
ENSG00000219545	Chromatin interaction
ENSG00000099341	Chromatin interaction
ENSG00000106399	Chromatin interaction
ENSG00000164654	Chromatin interaction
ENSG00000106392	Chromatin interaction
ENSG00000272894	Chromatin interaction
ENSG00000272732	Chromatin interaction
ENSG00000229970	Chromatin interaction
ENSG00000244239	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1013002	0.87[EUR][1000 genomes]
rs1016028	0.91[EUR][1000 genomes]
rs11976831	0.91[EUR][1000 genomes]
rs2108067	0.91[EUR][1000 genomes]
rs2190248	0.91[EUR][1000 genomes]
rs2348339	0.87[EUR][1000 genomes]
rs4720741	0.87[EUR][1000 genomes]
rs6946022	0.87[EUR][1000 genomes]
rs6946425	0.87[EUR][1000 genomes]
rs6948157	0.91[EUR][1000 genomes]
rs6964397	0.91[EUR][1000 genomes]
rs7789187	0.91[EUR][1000 genomes]
rs7791344	0.87[EUR][1000 genomes]
rs7796709	0.91[EUR][1000 genomes]
rs7808788	0.91[EUR][1000 genomes]
rs9640043	0.91[EUR][1000 genomes]
rs972600	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv887470	chr7:7310023-7655094	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv887474	chr7:7519603-7679644	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv887475	chr7:7519603-7679644	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv887476	chr7:7519603-7680697	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 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	chr7:7604200-7607800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:7605200-7607400	Active TSS	Pancreas	Pancrea
3	chr7:7605400-7607400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr7:7605600-7607400	Active TSS	Fetal Kidney	kidney
5	chr7:7605600-7607400	Active TSS	Rectal Smooth Muscle	rectum
6	chr7:7605800-7607200	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr7:7605800-7607200	Active TSS	Fetal Stomach	stomach
8	chr7:7605800-7607400	Active TSS	Fetal Lung	lung
9	chr7:7605800-7607400	Active TSS	Lung	lung
10	chr7:7605800-7607400	Active TSS	Small Intestine	intestine
11	chr7:7605800-7607400	Active TSS	Stomach Smooth Muscle	stomach
12	chr7:7605800-7607600	Active TSS	Fetal Brain Female	brain
13	chr7:7605800-7607800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:7605800-7608000	Active TSS	NHDF-Ad	bronchial
15	chr7:7605800-7608600	Active TSS	NHLF	lung
16	chr7:7606000-7607200	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr7:7606000-7607200	Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr7:7606000-7607200	Active TSS	Colon Smooth Muscle	Colon
19	chr7:7606000-7607200	Active TSS	Thymus	Thymus
20	chr7:7606000-7607400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:7606000-7607400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:7606000-7607400	Active TSS	Esophagus	oesophagus
23	chr7:7606000-7607600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr7:7606000-7607600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:7606000-7607600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:7606000-7607600	Active TSS	Brain Angular Gyrus	brain
27	chr7:7606000-7607600	Active TSS	Brain Germinal Matrix	brain
28	chr7:7606000-7607600	Active TSS	Fetal Muscle Trunk	muscle
29	chr7:7606000-7607800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:7606000-7607800	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr7:7606000-7607800	Active TSS	Brain Cingulate Gyrus	brain
32	chr7:7606000-7608000	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr7:7606000-7608000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:7606000-7608200	Active TSS	Psoas Muscle	Psoas
35	chr7:7606000-7609200	Active TSS	Right Atrium	heart
36	chr7:7606200-7607000	Active TSS	Placenta Amnion	Placenta Amnion
37	chr7:7606200-7607000	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr7:7606200-7607200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:7606200-7607200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:7606200-7607200	Active TSS	Primary B cells from peripheral blood	blood
41	chr7:7606200-7607200	Active TSS	Primary T cells from cord blood	blood
42	chr7:7606200-7607200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr7:7606200-7607200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:7606200-7607200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:7606200-7607200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr7:7606200-7607200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:7606200-7607200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:7606200-7607200	Active TSS	Brain Hippocampus Middle	brain
49	chr7:7606200-7607200	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr7:7606200-7607200	Active TSS	Duodenum Mucosa	Duodenum

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