Variant report

Variant	rs387906322
Chromosome Location	chr3:138664867-138664868
allele	(AGCTGCGGCTGCAGC(3))
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	YY1	chr3:138664704-138666204	K562	blood:	n/a	chr3:138664897-138664917 chr3:138666106-138666117 chr3:138665889-138665898
2	HCFC1	chr3:138664826-138666363	Hela-S3	cervix:	n/a	n/a
3	E2F4	chr3:138664772-138666227	K562	blood:	n/a	chr3:138666110-138666120 chr3:138665889-138665898
4	MAX	chr3:138664549-138666373	A549	lung:	n/a	chr3:138666114-138666124
5	MAX	chr3:138663821-138666675	K562	blood:	n/a	chr3:138666114-138666124
6	E2F6	chr3:138663661-138666655	H1-hESC	embryonic stem cell:	n/a	chr3:138666110-138666120 chr3:138665889-138665898
7	CTCF	chr3:138664845-138665543	A549	lung:	n/a	n/a
8	MYC	chr3:138664664-138665415	K562	blood:	n/a	n/a
9	UBTF	chr3:138664715-138666727	K562	blood:	n/a	n/a
10	ZBTB7A	chr3:138664737-138665288	K562	blood:	n/a	n/a
11	POLR2A	chr3:138664719-138666765	K562	blood:	n/a	n/a
12	SETDB1	chr3:138663779-138665311	K562	blood:	n/a	n/a
13	CCNT2	chr3:138663704-138666364	K562	blood:	n/a	chr3:138665889-138665898 chr3:138665882-138665891
14	MAX	chr3:138663637-138666899	K562	blood:	n/a	chr3:138666114-138666124
15	MAX	chr3:138663689-138665507	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr3:138664843-138665305	A549	lung:	n/a	n/a
17	MAX	chr3:138664794-138665743	ECC-1	luminal epithelium:	n/a	n/a
18	E2F6	chr3:138663622-138666590	K562	blood:	n/a	chr3:138666110-138666120 chr3:138665889-138665898
19	MYC	chr3:138662705-138666843	K562	blood:	n/a	chr3:138666114-138666124
20	E2F6	chr3:138664710-138665319	K562	blood:	n/a	n/a
21	CHD2	chr3:138664743-138666192	K562	blood:	n/a	chr3:138665882-138665892
22	GABPA	chr3:138664863-138665380	K562	blood:	n/a	n/a
23	JUN	chr3:138664800-138666967	K562	blood:	n/a	chr3:138666034-138666043 chr3:138665890-138665899
24	MAX	chr3:138663683-138666644	H1-hESC	embryonic stem cell:	n/a	chr3:138666114-138666124
25	MAX	chr3:138663930-138665344	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr3:138664736-138666880	K562	blood:	n/a	n/a
27	CTCF	chr3:138664800-138664950	SAEC	small airway:	n/a	n/a
28	UBTF	chr3:138664735-138666913	K562	blood:	n/a	n/a
29	E2F6	chr3:138663731-138667013	K562	blood:	n/a	chr3:138666110-138666120 chr3:138665889-138665898
30	HMGN3	chr3:138663651-138666531	K562	blood:	n/a	n/a
31	E2F6	chr3:138663107-138666566	H1-hESC	embryonic stem cell:	n/a	chr3:138666110-138666120 chr3:138665889-138665898
32	POLR2A	chr3:138664603-138666834	K562	blood:	n/a	n/a
33	MAX	chr3:138664838-138666310	Hela-S3	cervix:	n/a	chr3:138666114-138666124
34	POLR2A	chr3:138664490-138665255	A549	lung:	n/a	n/a
35	CTBP2	chr3:138663148-138666770	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr3:138664745-138666712	K562	blood:	n/a	n/a
37	SUZ12	chr3:138662343-138670118	NT2-D1	testis:	n/a	n/a
38	E2F6	chr3:138664721-138665558	A549	lung:	n/a	n/a
39	MAX	chr3:138664613-138665514	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:138662930..138665142-chr3:139048462..139050899,2	K562	blood:
2	chr3:138663277..138665291-chr3:138920079..138922965,2	K562	blood:
3	chr3:138663376..138665458-chr3:138892996..138895666,2	K562	blood:
4	chr3:138661376..138665068-chr3:139062620..139064700,3	K562	blood:

Variant related genes	Relation type
ENSG00000244578	TF binding region
C3orf72	TF binding region
ENSG00000175110	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh 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	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1010514	chr3:138365640-138737688	Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv917964	chr3:138440701-138699084	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv877540	chr3:138645013-138670695	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv877541	chr3:138645013-138673922	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv877542	chr3:138645013-138750904	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv3338518	chr3:138663787-138666635	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv530096	chr3:138664024-138665683	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138662400-138666600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr3:138662800-138666600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr3:138663000-138665000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
4	chr3:138663000-138665200	Bivalent Enhancer	Liver	Liver
5	chr3:138663000-138666400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr3:138663000-138666600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:138663000-138666600	Active TSS	Hela-S3	cervix
8	chr3:138663200-138665200	Bivalent Enhancer	Placenta	Placenta
9	chr3:138663200-138666000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
10	chr3:138663200-138666000	Bivalent Enhancer	Small Intestine	intestine
11	chr3:138663400-138665200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr3:138663400-138665200	Bivalent Enhancer	Stomach Mucosa	stomach
13	chr3:138663400-138666400	Bivalent Enhancer	Fetal Brain Male	brain
14	chr3:138663400-138666600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr3:138663600-138665400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:138663600-138666400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:138663600-138666600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr3:138663600-138666600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr3:138663600-138666800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr3:138663800-138665000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
21	chr3:138663800-138665200	Bivalent Enhancer	Left Ventricle	heart
22	chr3:138663800-138665400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:138663800-138665800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
24	chr3:138663800-138666200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
25	chr3:138663800-138666400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:138663800-138666400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:138663800-138666400	Bivalent/Poised TSS	Psoas Muscle	Psoas
28	chr3:138664000-138665000	Bivalent Enhancer	Lung	lung
29	chr3:138664000-138665000	Transcr. at gene 5' and 3'	Right Atrium	heart
30	chr3:138664000-138665000	Bivalent Enhancer	Spleen	Spleen
31	chr3:138664000-138665000	Bivalent Enhancer	HUVEC	blood vessel
32	chr3:138664000-138666200	Bivalent/Poised TSS	HSMM	muscle
33	chr3:138664200-138665000	Bivalent/Poised TSS	Fetal Brain Female	brain
34	chr3:138664200-138665200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr3:138664200-138665200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
36	chr3:138664200-138665200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr3:138664200-138665800	Enhancers	Gastric	stomach
38	chr3:138664200-138666400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
39	chr3:138664200-138666600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:138664400-138665000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
41	chr3:138664400-138665000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
42	chr3:138664400-138665000	Bivalent Enhancer	Brain Germinal Matrix	brain
43	chr3:138664400-138665200	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr3:138664400-138665400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
45	chr3:138664400-138666000	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr3:138664400-138666400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:138664400-138666600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:138664400-138666600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
49	chr3:138664400-138666800	Active TSS	NHDF-Ad	bronchial
50	chr3:138664600-138665000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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