Variant report

Variant	rs7668802
Chromosome Location	chr4:6986236-6986237
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr4:6986213-6986380	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:6986192-6986242	RPTEC	kidney:	n/a
2	chr4:6986192-6986242	CMK	blood:	n/a
3	chr4:6986192-6986242	HPAEpiC	pulmonary alveolar:	n/a
4	chr4:6986192-6986242	HNPCEpiC	eye:	n/a
5	chr4:6986192-6986242	PANC-1	pancreas:	n/a
6	chr4:6986192-6986242	AG04450	lung:	fetal
7	chr4:6986192-6986242	HRE	kidney:	n/a
8	chr4:6986192-6986242	GM12892	blood:	n/a
9	chr4:6986192-6986242	HMEC	breast:	n/a
10	chr4:6986192-6986242	Caco-2	colon:	n/a
11	chr4:6986192-6986242	HCM	heart:	n/a
12	chr4:6986192-6986242	Hela-S3	cervix:	n/a
13	chr4:6986192-6986242	HRPEpiC	eye:	n/a
14	chr4:6986192-6986242	HIPEpiC	eye:	n/a
15	chr4:6986192-6986242	MCF10A-Er-Src	breast:	n/a
16	chr4:6986192-6986242	T-47D	breast:	n/a
17	chr4:6986192-6986242	BJ	skin:	n/a
18	chr4:6986192-6986242	IMR90	lung:	fetal
19	chr4:6986192-6986242	AoSMC	blood vessel:	n/a
20	chr4:6986192-6986242	ECC-1	luminal epithelium:	n/a
21	chr4:6986192-6986242	Hepatocyte	liver:	n/a
22	chr4:6986192-6986242	U87	brain:	n/a
23	chr4:6986192-6986242	SAEC	small airway:	n/a
24	chr4:6986192-6986242	AG09309	skin:	n/a
25	chr4:6986192-6986242	NH-A	brain:	n/a
26	chr4:6986192-6986242	HRCEpiC	kidney:	n/a
27	chr4:6986192-6986242	NHBE	bronchial:	n/a
28	chr4:6986192-6986242	GM19239	blood:	n/a
29	chr4:6986192-6986242	HCPEpiC	choroid plexus:	n/a
30	chr4:6986192-6986242	NB4	blood:	n/a
31	chr4:6986192-6986242	HEEpiC	esophagus:	n/a
32	chr4:6986192-6986242	GM06990	blood:	n/a
33	chr4:6986192-6986242	AG04449	skin:	fetal
34	chr4:6986192-6986242	NHDF-neo	bronchial:	n/a
35	chr4:6986192-6986242	NT2-D1	testis:	n/a
36	chr4:6986192-6986242	HUVEC	blood vessel:	n/a
37	chr4:6986192-6986242	SKMC	muscle:	n/a
38	chr4:6986192-6986242	ovcar-3	ovarian:	n/a
39	chr4:6986192-6986242	ProgFib	skin:	n/a
40	chr4:6986192-6986242	LNCaP	prostate:	n/a
41	chr4:6986192-6986242	SK-N-SH_RA	brain:	n/a
42	chr4:6986192-6986242	H1-hESC	embryonic stem cell:	embryo
43	chr4:6986192-6986242	A549	lung:	n/a
44	chr4:6986192-6986242	SK-N-SH	brain:	n/a
45	chr4:6986192-6986242	MCF-7	breast:	n/a
46	chr4:6986192-6986242	HCT-116	colon:	n/a
47	chr4:6986192-6986242	Jurkat	blood:	n/a
48	chr4:6986192-6986242	HAEpiC	amniotic membrane:	n/a
49	chr4:6986192-6986242	K562	blood:	n/a
50	chr4:6986192-6986242	PrEC	prostate:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6982427..6986274-chr4:6986915..6990126,4	MCF-7	breast:
2	chr4:6980739..6983289-chr4:6985192..6987029,3	K562	blood:
3	chr4:6985775..6987930-chr4:7003466..7005254,2	MCF-7	breast:
4	chr4:6964388..6966131-chr4:6985503..6987290,2	K562	blood:
5	chr4:6981170..6985080-chr4:6985804..6988739,4	MCF-7	breast:
6	chr4:6979186..6983074-chr4:6985701..6987912,3	K562	blood:

No data

Variant related genes	Relation type
TBC1D14	TF binding region
TBC1D14	CpG island
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10000433	0.84[EUR][1000 genomes]
rs1048009	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28384174	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28729690	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41410847	1.00[ASN][1000 genomes]
rs55633489	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55659111	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55672215	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55688389	0.80[AFR][1000 genomes]
rs55740475	1.00[ASN][1000 genomes]
rs55833486	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55913461	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55942328	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56031152	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56074877	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56081162	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56094305	1.00[ASN][1000 genomes]
rs56178503	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56268690	0.80[EUR][1000 genomes]
rs56300156	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56320732	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56350643	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56400338	1.00[ASN][1000 genomes]
rs56903115	1.00[ASN][1000 genomes]
rs57454756	1.00[ASN][1000 genomes]
rs59683609	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59742225	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59809420	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60048916	1.00[ASN][1000 genomes]
rs66519732	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66573146	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66611116	1.00[ASN][1000 genomes]
rs66645969	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66712119	0.92[EUR][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]
rs67067921	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67245546	1.00[ASN][1000 genomes]
rs67252699	1.00[ASN][1000 genomes]
rs67315413	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67321746	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67405518	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67702333	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67750430	1.00[ASN][1000 genomes]
rs67922134	1.00[ASN][1000 genomes]
rs67998004	1.00[ASN][1000 genomes]
rs68111914	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6812391	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6812771	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68169399	1.00[ASN][1000 genomes]
rs6836225	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6838042	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838250	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6841389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6851488	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855531	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088528	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088564	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73199995	1.00[ASN][1000 genomes]
rs73202120	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73202122	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675281	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686168	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686186	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9942188	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9992596	0.81[EUR][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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6965400-6987800	Weak transcription	Small Intestine	intestine
2	chr4:6968000-6987600	Weak transcription	HSMM	muscle
3	chr4:6970800-6987800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:6971600-6986400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:6976200-6987800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:6976400-6987800	Weak transcription	Fetal Thymus	thymus
7	chr4:6976600-6986400	Weak transcription	A549	lung
8	chr4:6976600-6987000	Weak transcription	Fetal Kidney	kidney
9	chr4:6976600-6987400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:6976600-6987600	Weak transcription	Thymus	Thymus
11	chr4:6976800-6986400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:6976800-6986600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:6978600-6986600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr4:6981200-6986400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:6982200-6987200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr4:6984000-6986400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr4:6985000-6986400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr4:6985000-6986800	Enhancers	Primary B cells from cord blood	blood
19	chr4:6985000-6986800	Enhancers	Spleen	Spleen
20	chr4:6985000-6987800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr4:6985000-6987800	Enhancers	Primary B cells from peripheral blood	blood
22	chr4:6985200-6986400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:6985200-6986400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:6985200-6986800	Enhancers	Lung	lung
25	chr4:6985200-6986800	Enhancers	Psoas Muscle	Psoas
26	chr4:6985200-6987000	Enhancers	Primary hematopoietic stem cells	blood
27	chr4:6985200-6987200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr4:6985200-6987200	Enhancers	K562	blood
29	chr4:6985200-6987400	Enhancers	Liver	Liver
30	chr4:6985200-6987400	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr4:6985200-6987600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:6985200-6987800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr4:6985400-6986600	Enhancers	Brain Hippocampus Middle	brain
34	chr4:6985400-6986600	Enhancers	HepG2	liver
35	chr4:6985400-6987600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr4:6985400-6987600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr4:6985600-6987600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr4:6985600-6987600	Enhancers	Adipose Nuclei	Adipose
39	chr4:6985600-6987600	Enhancers	Fetal Intestine Large	intestine
40	chr4:6985800-6986400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:6985800-6986400	Enhancers	GM12878-XiMat	blood
42	chr4:6985800-6986800	Enhancers	Gastric	stomach
43	chr4:6985800-6987400	Enhancers	Duodenum Mucosa	Duodenum
44	chr4:6985800-6987600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr4:6985800-6987800	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr4:6986000-6986400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:6986000-6986400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr4:6986000-6986400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:6986000-6986600	Enhancers	Ovary	ovary
50	chr4:6986000-6986600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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