Variant report

Variant	rs67315413
Chromosome Location	chr4:6987910-6987911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr4:6987896-6989658	K562	blood:	n/a	n/a
2	MYC	chr4:6987868-6989456	K562	blood:	n/a	n/a
3	HEY1	chr4:6987905-6988892	K562	blood:	n/a	chr4:6988819-6988834
4	HCFC1	chr4:6987864-6989690	Hela-S3	cervix:	n/a	n/a
5	MAX	chr4:6987834-6989492	Hela-S3	cervix:	n/a	n/a
6	JUND	chr4:6987802-6989378	K562	blood:	n/a	n/a
7	RCOR1	chr4:6987894-6989308	K562	blood:	n/a	n/a
8	POLR2A	chr4:6987854-6989224	K562	blood:	n/a	n/a
9	ZC3H11A	chr4:6987880-6988750	K562	blood:	n/a	n/a
10	MAX	chr4:6987880-6989579	NB4	blood:	n/a	n/a
11	MXI1	chr4:6987387-6990610	SK-N-SH	brain:	n/a	n/a
12	MAX	chr4:6987818-6989599	K562	blood:	n/a	n/a
13	MYC	chr4:6987842-6988923	MCF10A-Er-Src	breast:	n/a	n/a
14	RAD21	chr4:6987643-6989061	IMR90	lung:	n/a	n/a
15	POLR2A	chr4:6987873-6988939	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr4:6987749-6989674	IMR90	lung:	n/a	n/a
17	POLR2A	chr4:6987715-6989290	GM12891	blood:	n/a	n/a
18	CTCF	chr4:6987780-6987930	HEEpiC	esophagus:	n/a	n/a
19	POLR2A	chr4:6987856-6990090	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYC	chr4:6987796-6989421	K562	blood:	n/a	n/a
21	UBTF	chr4:6987777-6989521	K562	blood:	n/a	n/a
22	MAX	chr4:6987774-6989567	SK-N-SH	brain:	n/a	n/a
23	MAFK	chr4:6987753-6988375	IMR90	lung:	n/a	n/a
24	BHLHE40	chr4:6987847-6989410	K562	blood:	n/a	chr4:6988878-6988894
25	MXI1	chr4:6987567-6990451	IMR90	lung:	n/a	n/a
26	POLR2A	chr4:6987823-6989212	HUVEC	blood vessel:	n/a	n/a
27	CUX1	chr4:6987809-6989053	K562	blood:	n/a	n/a
28	MAZ	chr4:6987780-6990093	IMR90	lung:	n/a	n/a
29	POLR2A	chr4:6987893-6989757	MCF10A-Er-Src	breast:	n/a	n/a
30	TBL1XR1	chr4:6987842-6989572	GM12878	blood:	n/a	n/a
31	POLR2A	chr4:6987825-6991466	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr4:6987527-6989394	K562	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6987057..6988717-chr4:7023046..7025909,2	K562	blood:
2	chr4:6987851..6990703-chr4:7053695..7056080,2	MCF-7	breast:
3	chr4:6909306..6913096-chr4:6986692..6990153,8	K562	blood:
4	chr4:6987263..6989293-chr4:7068529..7070966,2	MCF-7	breast:
5	chr4:6716379..6718231-chr4:6987707..6990478,2	K562	blood:
6	chr4:6783058..6785294-chr4:6987568..6991326,3	MCF-7	breast:
7	chr4:6987873..6988804-chr5:133860180..133861147,2	Hela-S3	cervix:
8	chr4:6985775..6987930-chr4:7003466..7005254,2	MCF-7	breast:
9	chr4:6909371..6913138-chr4:6987040..6991863,16	MCF-7	breast:
10	chr4:6987653..6990708-chr4:7043238..7045970,4	MCF-7	breast:
11	chr4:6715191..6718231-chr4:6987509..6990478,3	K562	blood:
12	chr4:6987138..6988665-chr4:7067357..7069281,2	MCF-7	breast:
13	chr4:6909040..6912883-chr4:6987028..6993211,15	MCF-7	breast:
14	chr4:6981170..6985080-chr4:6985804..6988739,4	MCF-7	breast:
15	chr4:6979186..6983074-chr4:6985701..6987912,3	K562	blood:
16	chr4:6909508..6912885-chr4:6987339..6990016,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC96-2	chr4:6987654-6988772	NONHSAT095029

No data

Variant related genes	Relation type
TBC1D14	TF binding region
ENSG00000170871	Chromatin interaction
ENSG00000173011	Chromatin interaction
ENSG00000109519	Chromatin interaction
ENSG00000186222	Chromatin interaction
ENSG00000173013	Chromatin interaction
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1048009	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28384174	1.00[ASN][1000 genomes]
rs28729690	1.00[ASN][1000 genomes]
rs41410847	1.00[ASN][1000 genomes]
rs55633489	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55659111	0.82[EUR][1000 genomes]
rs55672215	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55740475	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55833486	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55913461	0.82[EUR][1000 genomes]
rs55942328	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56031152	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56074877	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56081162	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56094305	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56097119	0.87[EUR][1000 genomes]
rs56178503	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56300156	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56320732	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56350643	0.82[EUR][1000 genomes]
rs56400338	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56903115	1.00[ASN][1000 genomes]
rs57454756	1.00[ASN][1000 genomes]
rs59683609	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59742225	1.00[ASN][1000 genomes]
rs59809420	1.00[ASN][1000 genomes]
rs60048916	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66519732	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs66573146	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66611116	1.00[ASN][1000 genomes]
rs66645969	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66712119	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66734745	1.00[ASN][1000 genomes]
rs66808450	1.00[ASN][1000 genomes]
rs66819208	1.00[ASN][1000 genomes]
rs66905212	1.00[ASN][1000 genomes]
rs66978412	0.81[AFR][1000 genomes]
rs67067921	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67245546	1.00[ASN][1000 genomes]
rs67252699	1.00[ASN][1000 genomes]
rs67321746	1.00[ASN][1000 genomes]
rs67405518	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67702333	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67750430	1.00[ASN][1000 genomes]
rs67922134	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67998004	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs68111914	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6812391	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6812771	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs68169399	1.00[ASN][1000 genomes]
rs6838042	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838250	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6841389	0.82[EUR][1000 genomes]
rs6851488	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855531	1.00[ASN][1000 genomes]
rs73088528	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73088564	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73199995	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73202120	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73202122	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7668802	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675281	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686168	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686186	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9942188	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[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	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6986000-6988000	Flanking Active TSS	Brain Anterior Caudate	brain
2	chr4:6986400-6988000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:6986600-6988000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:6986600-6988000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr4:6986800-6988000	Weak transcription	Lung	lung
6	chr4:6986800-6988600	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr4:6986800-6989200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:6987000-6988400	Active TSS	Brain Germinal Matrix	brain
9	chr4:6987000-6989000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:6987000-6989800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:6987200-6988000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:6987200-6988000	Flanking Active TSS	A549	lung
13	chr4:6987200-6988200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:6987200-6988200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:6987200-6988200	Flanking Active TSS	K562	blood
16	chr4:6987200-6988200	Flanking Active TSS	NHEK	skin
17	chr4:6987200-6988400	Flanking Active TSS	Dnd41	blood
18	chr4:6987200-6989400	Active TSS	Brain Angular Gyrus	brain
19	chr4:6987200-6989800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:6987400-6988200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:6987400-6988200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr4:6987400-6988200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:6987400-6988200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:6987400-6988200	Flanking Active TSS	Brain Substantia Nigra	brain
25	chr4:6987400-6988200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr4:6987400-6988200	Flanking Active TSS	Fetal Intestine Small	intestine
27	chr4:6987400-6988200	Flanking Active TSS	Fetal Kidney	kidney
28	chr4:6987400-6988200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr4:6987400-6988200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr4:6987400-6988200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr4:6987400-6988200	Flanking Active TSS	NHLF	lung
32	chr4:6987400-6988200	Flanking Active TSS	Osteobl	bone
33	chr4:6987400-6988400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:6987400-6988400	Flanking Active TSS	Liver	Liver
35	chr4:6987400-6988400	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr4:6987400-6988400	Flanking Active TSS	HMEC	breast
37	chr4:6987400-6988400	Flanking Active TSS	HUVEC	blood vessel
38	chr4:6987600-6988000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr4:6987600-6988000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:6987600-6988000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:6987600-6988000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr4:6987600-6988000	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr4:6987600-6988000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr4:6987600-6988200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:6987600-6988200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr4:6987600-6988200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr4:6987600-6988200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr4:6987600-6988200	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr4:6987600-6988200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr4:6987600-6988200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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