Variant report

Variant	rs3857168
Chromosome Location	chr4:6988238-6988239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:135)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:135 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr4:6987938-6989550	NB4	blood:	n/a	n/a
2	CREB1	chr4:6988164-6989554	HepG2	liver:	n/a	n/a
3	RCOR1	chr4:6988072-6989222	Hela-S3	cervix:	n/a	n/a
4	MAX	chr4:6987997-6989679	A549	lung:	n/a	n/a
5	MAZ	chr4:6987964-6989416	K562	blood:	n/a	n/a
6	YY1	chr4:6988226-6989119	K562	blood:	n/a	chr4:6988842-6988851 chr4:6988512-6988523 chr4:6988798-6988809
7	EP300	chr4:6988030-6989052	K562	blood:	n/a	n/a
8	MYC	chr4:6987896-6989658	K562	blood:	n/a	n/a
9	MYC	chr4:6987868-6989456	K562	blood:	n/a	n/a
10	TAF1	chr4:6988210-6989595	H1-hESC	embryonic stem cell:	n/a	n/a
11	MXI1	chr4:6988080-6989415	K562	blood:	n/a	n/a
12	POLR2A	chr4:6988099-6989452	K562	blood:	n/a	n/a
13	CTCF	chr4:6988140-6988290	HFF	foreskin:	n/a	n/a
14	HEY1	chr4:6987905-6988892	K562	blood:	n/a	chr4:6988819-6988834
15	HCFC1	chr4:6987864-6989690	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr4:6988210-6988814	GM12891	blood:	n/a	n/a
17	MYC	chr4:6987921-6989792	MCF10A-Er-Src	breast:	n/a	n/a
18	MAX	chr4:6987834-6989492	Hela-S3	cervix:	n/a	n/a
19	SIN3AK20	chr4:6988052-6989573	MCF-7	breast:	n/a	n/a
20	YY1	chr4:6988163-6988379	K562	blood:	n/a	n/a
21	CHD2	chr4:6988116-6989091	Hela-S3	cervix:	n/a	n/a
22	RCOR1	chr4:6988206-6988253	K562	blood:	n/a	n/a
23	POLR2A	chr4:6988197-6989230	NB4	blood:	n/a	n/a
24	POLR2A	chr4:6988091-6988351	HepG2	liver:	n/a	n/a
25	JUND	chr4:6987802-6989378	K562	blood:	n/a	n/a
26	MYC	chr4:6988235-6989452	K562	blood:	n/a	n/a
27	POLR2A	chr4:6987953-6989443	GM18505	blood:	n/a	n/a
28	TFAP2C	chr4:6988019-6988859	Hela-S3	cervix:	n/a	n/a
29	RCOR1	chr4:6987894-6989308	K562	blood:	n/a	n/a
30	TBP	chr4:6988021-6988875	Hela-S3	cervix:	n/a	n/a
31	TCF7L2	chr4:6988214-6989419	HCT-116	colon:	n/a	n/a
32	MAX	chr4:6988017-6989654	HCT-116	colon:	n/a	n/a
33	POLR2A	chr4:6987923-6989220	GM12878	blood:	n/a	n/a
34	POLR2A	chr4:6988235-6988794	GM12892	blood:	n/a	n/a
35	POLR2A	chr4:6987854-6989224	K562	blood:	n/a	n/a
36	POLR2A	chr4:6988124-6989430	K562	blood:	n/a	n/a
37	HCFC1	chr4:6988161-6989325	K562	blood:	n/a	n/a
38	POLR2A	chr4:6988149-6989336	GM15510	blood:	n/a	n/a
39	POLR2A	chr4:6988217-6988787	GM12878	blood:	n/a	n/a
40	TBP	chr4:6988112-6989010	K562	blood:	n/a	n/a
41	POLR2A	chr4:6988186-6989358	K562	blood:	n/a	n/a
42	MAX	chr4:6988167-6989510	MCF-7	breast:	n/a	n/a
43	MAX	chr4:6988144-6989595	ECC-1	luminal epithelium:	n/a	n/a
44	MAX	chr4:6988125-6989408	K562	blood:	n/a	n/a
45	TEAD4	chr4:6987983-6988859	K562	blood:	n/a	n/a
46	MAX	chr4:6988142-6989490	HepG2	liver:	n/a	n/a
47	MXI1	chr4:6988135-6989835	Hela-S3	cervix:	n/a	n/a
48	CREB1	chr4:6988111-6989447	K562	blood:	n/a	n/a
49	BACH1	chr4:6988165-6988314	K562	blood:	n/a	n/a
50	MAX	chr4:6988094-6989588	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:6988209-6988259	HCT-116	colon:	n/a
2	chr4:6988209-6988259	HAEpiC	amniotic membrane:	n/a
3	chr4:6988209-6988259	RPTEC	kidney:	n/a
4	chr4:6988209-6988259	NT2-D1	testis:	n/a
5	chr4:6988209-6988259	Jurkat	blood:	n/a
6	chr4:6988209-6988259	HMEC	breast:	n/a
7	chr4:6988209-6988259	HPAEpiC	pulmonary alveolar:	n/a
8	chr4:6988209-6988259	MCF10A-Er-Src	breast:	n/a
9	chr4:6988209-6988259	AG04450	lung:	fetal
10	chr4:6988209-6988259	SK-N-MC	brain:	n/a
11	chr4:6988209-6988259	BE2_C	brain:	n/a
12	chr4:6988209-6988259	U87	brain:	n/a
13	chr4:6988209-6988259	SKMC	muscle:	n/a
14	chr4:6988209-6988259	Caco-2	colon:	n/a
15	chr4:6988209-6988259	HRPEpiC	eye:	n/a
16	chr4:6988209-6988259	ProgFib	skin:	n/a
17	chr4:6988209-6988259	LNCaP	prostate:	n/a
18	chr4:6988209-6988259	BJ	skin:	n/a
19	chr4:6988209-6988259	AG10803	skin:	n/a
20	chr4:6988209-6988259	HRCEpiC	kidney:	n/a
21	chr4:6988209-6988259	NB4	blood:	n/a
22	chr4:6988209-6988259	AG09309	skin:	n/a
23	chr4:6988209-6988259	HEK293	kidney:	embryo
24	chr4:6988209-6988259	GM06990	blood:	n/a
25	chr4:6988209-6988259	PFSK-1	brain:	n/a
26	chr4:6988209-6988259	HEEpiC	esophagus:	n/a
27	chr4:6988209-6988259	GM12878	blood:	n/a
28	chr4:6988209-6988259	ECC-1	luminal epithelium:	n/a
29	chr4:6988209-6988259	Hepatocyte	liver:	n/a
30	chr4:6988209-6988259	NH-A	brain:	n/a
31	chr4:6988209-6988259	PANC-1	pancreas:	n/a
32	chr4:6988209-6988259	AG04449	skin:	fetal
33	chr4:6988209-6988259	Hela-S3	cervix:	n/a
34	chr4:6988209-6988259	SAEC	small airway:	n/a
35	chr4:6988209-6988259	SK-N-SH	brain:	n/a
36	chr4:6988209-6988259	K562	blood:	n/a
37	chr4:6988209-6988259	ovcar-3	ovarian:	n/a
38	chr4:6988209-6988259	HCPEpiC	choroid plexus:	n/a
39	chr4:6988209-6988259	HIPEpiC	eye:	n/a
40	chr4:6988209-6988259	MCF-7	breast:	n/a
41	chr4:6988209-6988259	HCM	heart:	n/a
42	chr4:6988209-6988259	AG09319	gingival:	n/a
43	chr4:6988209-6988259	T-47D	breast:	n/a
44	chr4:6988209-6988259	IMR90	lung:	fetal
45	chr4:6988209-6988259	GM12891	blood:	n/a
46	chr4:6988209-6988259	H1-hESC	embryonic stem cell:	embryo
47	chr4:6988209-6988259	HL-60	blood:	n/a
48	chr4:6988209-6988259	GM12892	blood:	n/a
49	chr4:6988209-6988259	NHBE	bronchial:	n/a
50	chr4:6988209-6988259	HRE	kidney:	n/a

(count:14 , 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	chr4:6909371..6913138-chr4:6987040..6991863,16	MCF-7	breast:
9	chr4:6987653..6990708-chr4:7043238..7045970,4	MCF-7	breast:
10	chr4:6715191..6718231-chr4:6987509..6990478,3	K562	blood:
11	chr4:6987138..6988665-chr4:7067357..7069281,2	MCF-7	breast:
12	chr4:6909040..6912883-chr4:6987028..6993211,15	MCF-7	breast:
13	chr4:6981170..6985080-chr4:6985804..6988739,4	MCF-7	breast:
14	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
TBC1D14	CpG island
ENSG00000109519	Chromatin interaction
ENSG00000173011	Chromatin interaction
ENSG00000132405	Chromatin interaction
ENSG00000173013	Chromatin interaction
ENSG00000186222	Chromatin interaction
ENSG00000170871	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10009332	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10013211	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10013696	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10015163	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10019256	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10022869	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10155208	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10937771	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12512922	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12648134	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12650200	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12650264	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13140943	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17742611	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17743234	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2301820	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2301821	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28380685	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34173965	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35490604	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35772786	0.87[EUR][1000 genomes]
rs3857169	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3857170	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3892145	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3892976	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4234790	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4315786	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4484301	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4689571	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4689572	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56307635	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6834007	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7670187	0.84[ASN][1000 genomes]
rs7672632	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9999127	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats 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
4	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 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	chr4:6986800-6988600	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr4:6986800-6989200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:6987000-6988400	Active TSS	Brain Germinal Matrix	brain
4	chr4:6987000-6989000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:6987000-6989800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:6987200-6988400	Flanking Active TSS	Dnd41	blood
7	chr4:6987200-6989400	Active TSS	Brain Angular Gyrus	brain
8	chr4:6987200-6989800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:6987400-6988400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:6987400-6988400	Flanking Active TSS	Liver	Liver
11	chr4:6987400-6988400	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr4:6987400-6988400	Flanking Active TSS	HMEC	breast
13	chr4:6987400-6988400	Flanking Active TSS	HUVEC	blood vessel
14	chr4:6987600-6988400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:6987600-6988400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr4:6987600-6988400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr4:6987600-6988400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:6987600-6988400	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr4:6987600-6988400	Flanking Active TSS	NH-A	brain
20	chr4:6987600-6988600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr4:6987600-6988600	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr4:6987600-6988600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr4:6987600-6988600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr4:6987600-6988600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:6987600-6988600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr4:6987600-6988600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr4:6987600-6989400	Active TSS	Thymus	Thymus
28	chr4:6987600-6989800	Active TSS	Aorta	Aorta
29	chr4:6987600-6989800	Active TSS	Psoas Muscle	Psoas
30	chr4:6987600-6989800	Active TSS	Right Atrium	heart
31	chr4:6987600-6990000	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr4:6987600-6990000	Active TSS	Right Ventricle	heart
33	chr4:6987800-6988400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
34	chr4:6987800-6988400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:6987800-6988400	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr4:6987800-6988400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr4:6987800-6988400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr4:6987800-6988400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr4:6987800-6988400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:6987800-6988400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr4:6987800-6988400	Flanking Active TSS	Fetal Brain Male	brain
42	chr4:6987800-6988400	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr4:6987800-6988400	Flanking Active TSS	Fetal Thymus	thymus
44	chr4:6987800-6988400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
45	chr4:6987800-6988600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr4:6987800-6988600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr4:6987800-6988600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:6987800-6988600	Flanking Active TSS	Placenta	Placenta
49	chr4:6987800-6988600	Flanking Bivalent TSS/Enh	HepG2	liver
50	chr4:6987800-6989400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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