Variant report

Variant	rs34853181
Chromosome Location	chr3:141027683-141027684
allele	-/C
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	CTCF	chr3:141027560-141027710	HFF	foreskin:	n/a	chr3:141027643-141027659 chr3:141027644-141027657 chr3:141027642-141027660
2	JUND	chr3:141027478-141027786	K562	blood:	n/a	n/a
3	MAX	chr3:141027361-141027782	H1-hESC	embryonic stem cell:	n/a	chr3:141027611-141027622
4	CTCF	chr3:141027502-141027797	NHEK	skin:	n/a	chr3:141027643-141027659 chr3:141027546-141027559 chr3:141027644-141027657 chr3:141027544-141027562 chr3:141027539-141027560 chr3:141027642-141027660
5	STAT3	chr3:141027501-141027804	MCF10A-Er-Src	breast:	n/a	chr3:141027563-141027575 chr3:141027626-141027637
6	CTCF	chr3:141027580-141027730	BE2_C	brain:	n/a	chr3:141027643-141027659 chr3:141027644-141027657 chr3:141027642-141027660
7	YY1	chr3:141027513-141027825	HCT-116	colon:	n/a	n/a
8	MAX	chr3:141027262-141027872	K562	blood:	n/a	chr3:141027611-141027622
9	CTCF	chr3:141027503-141027709	A549	lung:	n/a	chr3:141027643-141027659 chr3:141027546-141027559 chr3:141027644-141027657 chr3:141027544-141027562 chr3:141027539-141027560 chr3:141027642-141027660
10	CTCF	chr3:141027600-141027750	HFF-Myc	foreskin:	n/a	chr3:141027643-141027659 chr3:141027644-141027657 chr3:141027642-141027660
11	CTCF	chr3:141027522-141027771	Kidney_OC	kidney:	n/a	chr3:141027643-141027659 chr3:141027546-141027559 chr3:141027644-141027657 chr3:141027544-141027562 chr3:141027539-141027560 chr3:141027642-141027660
12	RAD21	chr3:141027461-141027940	MCF-7	breast:	n/a	chr3:141027640-141027659 chr3:141027542-141027561 chr3:141027546-141027560
13	MAX	chr3:141027240-141028050	HCT-116	colon:	n/a	chr3:141027611-141027622
14	E2F6	chr3:141027168-141027932	A549	lung:	n/a	chr3:141027578-141027589
15	CTCF	chr3:141027412-141027828	HepG2	liver:	n/a	chr3:141027643-141027659 chr3:141027546-141027559 chr3:141027644-141027657 chr3:141027544-141027562 chr3:141027539-141027560 chr3:141027642-141027660
16	MYC	chr3:141027497-141027720	MCF-7	breast:	n/a	chr3:141027611-141027622
17	BHLHE40	chr3:141027444-141027783	K562	blood:	n/a	n/a
18	CTCF	chr3:141027265-141028137	A549	lung:	n/a	chr3:141027643-141027659 chr3:141027546-141027559 chr3:141027363-141027372 chr3:141027644-141027657 chr3:141027544-141027562 chr3:141027539-141027560 chr3:141027642-141027660
19	CTCF	chr3:141027580-141027730	NHDF-neo	bronchial:	n/a	chr3:141027643-141027659 chr3:141027644-141027657 chr3:141027642-141027660
20	CTCF	chr3:141027540-141027690	NHDF-neo	bronchial:	n/a	chr3:141027643-141027659 chr3:141027546-141027559 chr3:141027644-141027657 chr3:141027544-141027562 chr3:141027642-141027660
21	SIN3A	chr3:141027400-141027816	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr3:141027580-141027730	HRPEpiC	eye:	n/a	chr3:141027643-141027659 chr3:141027644-141027657 chr3:141027642-141027660
23	CTCF	chr3:141027580-141027730	AG09319	gingival:	n/a	chr3:141027643-141027659 chr3:141027644-141027657 chr3:141027642-141027660
24	BHLHE40	chr3:141027441-141027812	HepG2	liver:	n/a	n/a
25	ATF3	chr3:141027479-141027749	K562	blood:	n/a	n/a
26	CTCF	chr3:141027580-141027730	A549	lung:	n/a	chr3:141027643-141027659 chr3:141027644-141027657 chr3:141027642-141027660
27	CTCF	chr3:141027389-141027831	T-47D	breast:	n/a	chr3:141027643-141027659 chr3:141027546-141027559 chr3:141027644-141027657 chr3:141027544-141027562 chr3:141027539-141027560 chr3:141027642-141027660
28	CTCF	chr3:141027600-141027750	SAEC	small airway:	n/a	chr3:141027643-141027659 chr3:141027644-141027657 chr3:141027642-141027660
29	USF1	chr3:141027372-141027868	K562	blood:	n/a	n/a
30	CTCF	chr3:141027600-141027750	HPAF	blood vessel:	n/a	chr3:141027643-141027659 chr3:141027644-141027657 chr3:141027642-141027660
31	CTCF	chr3:141027600-141027750	HVMF	connective:	n/a	chr3:141027643-141027659 chr3:141027644-141027657 chr3:141027642-141027660
32	MAX	chr3:141027270-141027838	HepG2	liver:	n/a	chr3:141027611-141027622
33	RAD21	chr3:141027511-141027751	K562	blood:	n/a	chr3:141027640-141027659 chr3:141027542-141027561 chr3:141027546-141027560
34	USF1	chr3:141027399-141027838	A549	lung:	n/a	n/a
35	CTCF	chr3:141027532-141027779	HepG2	liver:	n/a	chr3:141027643-141027659 chr3:141027546-141027559 chr3:141027644-141027657 chr3:141027544-141027562 chr3:141027539-141027560 chr3:141027642-141027660
36	FOXA1	chr3:141027421-141027802	T-47D	breast:	n/a	n/a
37	STAT3	chr3:141027489-141027818	MCF10A-Er-Src	breast:	n/a	chr3:141027563-141027575 chr3:141027626-141027637
38	MAX	chr3:141027497-141027723	Hela-S3	cervix:	n/a	chr3:141027611-141027622
39	MAX	chr3:141027214-141028018	A549	lung:	n/a	chr3:141027611-141027622
40	SMC3	chr3:141027530-141027811	K562	blood:	n/a	chr3:141027553-141027560 chr3:141027644-141027658 chr3:141027546-141027560
41	MAX	chr3:141027434-141027808	A549	lung:	n/a	chr3:141027611-141027622
42	CTCF	chr3:141027428-141027846	H1-hESC	embryonic stem cell:	n/a	chr3:141027643-141027659 chr3:141027546-141027559 chr3:141027644-141027657 chr3:141027544-141027562 chr3:141027539-141027560 chr3:141027642-141027660
43	CTCF	chr3:141027580-141027730	HBMEC	blood vessel:	n/a	chr3:141027643-141027659 chr3:141027644-141027657 chr3:141027642-141027660
44	CTCF	chr3:141027600-141027750	HA-sp	spinal cord:	n/a	chr3:141027643-141027659 chr3:141027644-141027657 chr3:141027642-141027660
45	USF1	chr3:141027458-141027818	H1-hESC	embryonic stem cell:	n/a	n/a
46	ZNF143	chr3:141027450-141027800	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr3:141027335-141027890	MCF-7	breast:	n/a	chr3:141027643-141027659 chr3:141027546-141027559 chr3:141027363-141027372 chr3:141027644-141027657 chr3:141027544-141027562 chr3:141027539-141027560 chr3:141027642-141027660
48	POLR2A	chr3:141027422-141027871	HCT-116	colon:	n/a	n/a
49	CTCF	chr3:141027540-141027690	HRE	kidney:	n/a	chr3:141027643-141027659 chr3:141027546-141027559 chr3:141027644-141027657 chr3:141027544-141027562 chr3:141027642-141027660
50	GTF2F1	chr3:141027531-141027750	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:141027128..141029187-chr3:141047055..141049499,2	MCF-7	breast:
2	chr3:140950249..140951889-chr3:141027537..141030239,2	MCF-7	breast:
3	chr3:141027235..141027936-chr3:141174424..141175009,2	MCF-7	breast:
4	chr3:140950519..140952477-chr3:141026864..141029242,3	K562	blood:
5	chr3:140946906..140947764-chr3:141027081..141028157,3	MCF-7	breast:
6	chr3:141027145..141033256-chr3:141085204..141089995,12	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TFDP2-11	chr3:141025328-141030534	NONHSAT092424

Variant related genes	Relation type
ENSG00000249540	TF binding region
ENSG00000177311	Chromatin interaction
ENSG00000155893	Chromatin interaction
ENSG00000249417	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877551	chr3:140970556-141029860	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv460871	chr3:141027614-141074962	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv591893	chr3:141027614-141074962	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141012000-141029800	Weak transcription	Right Ventricle	heart
2	chr3:141012200-141029800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:141012200-141029800	Weak transcription	Brain Germinal Matrix	brain
4	chr3:141012200-141029800	Weak transcription	Left Ventricle	heart
5	chr3:141014000-141029800	Weak transcription	Spleen	Spleen
6	chr3:141014000-141030000	Weak transcription	Aorta	Aorta
7	chr3:141014200-141029800	Weak transcription	Right Atrium	heart
8	chr3:141021800-141029800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:141021800-141029800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:141022600-141029400	Weak transcription	Hela-S3	cervix
11	chr3:141022600-141029800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:141022800-141029600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:141022800-141030000	Weak transcription	HSMMtube	muscle
14	chr3:141023000-141029400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:141023000-141029600	Weak transcription	Adipose Nuclei	Adipose
16	chr3:141023000-141029800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:141023000-141029800	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:141023000-141029800	Weak transcription	Brain Substantia Nigra	brain
19	chr3:141023000-141029800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:141023000-141030000	Weak transcription	Esophagus	oesophagus
21	chr3:141023200-141029800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr3:141023200-141029800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr3:141023200-141029800	Weak transcription	Osteobl	bone
24	chr3:141023400-141029800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:141023600-141029600	Weak transcription	Fetal Heart	heart
26	chr3:141024000-141029600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr3:141024400-141029400	Weak transcription	A549	lung
28	chr3:141024800-141029800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr3:141025800-141029800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:141025800-141029800	Weak transcription	NHDF-Ad	bronchial
31	chr3:141026000-141029600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:141026000-141029800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:141026000-141029800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:141026000-141029800	Weak transcription	NHLF	lung
35	chr3:141026400-141029200	Weak transcription	GM12878-XiMat	blood
36	chr3:141026400-141029800	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr3:141026400-141029800	Weak transcription	Fetal Intestine Small	intestine
38	chr3:141026600-141027800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:141026600-141027800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr3:141026600-141028400	Enhancers	Primary T cells fromperipheralblood	blood
41	chr3:141026800-141028000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr3:141026800-141028000	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr3:141026800-141028000	Enhancers	Fetal Intestine Large	intestine
44	chr3:141026800-141029600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr3:141026800-141029600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr3:141027000-141027800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr3:141027000-141028000	Enhancers	Primary T cells from cord blood	blood
48	chr3:141027000-141029400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr3:141027200-141027800	Enhancers	Pancreas	Pancrea
50	chr3:141027200-141027800	Enhancers	Sigmoid Colon	Sigmoid Colon

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