Variant report

Variant	rs183421285
Chromosome Location	chr3:196159742-196159743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:159)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:159 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:196159068-196159847	PFSK-1	brain:	n/a	n/a
2	MAX	chr3:196158976-196159941	A549	lung:	n/a	chr3:196159745-196159755 chr3:196159009-196159019 chr3:196159007-196159017
3	MAFK	chr3:196159163-196159779	Hela-S3	cervix:	n/a	chr3:196159632-196159646 chr3:196159633-196159644 chr3:196159625-196159642
4	YY1	chr3:196158964-196159820	H1-hESC	embryonic stem cell:	n/a	n/a
5	KAP1	chr3:196159421-196159860	U2OS	brain:	n/a	n/a
6	YY1	chr3:196157997-196160047	SK-N-SH	brain:	n/a	chr3:196158444-196158458
7	SIN3A	chr3:196157885-196160017	H1-hESC	embryonic stem cell:	n/a	n/a
8	EP300	chr3:196158446-196159895	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr3:196159047-196159820	GM12878	blood:	n/a	n/a
10	MAX	chr3:196159418-196159785	H1-hESC	embryonic stem cell:	n/a	chr3:196159745-196159755
11	MAX	chr3:196159036-196159989	SK-N-SH	brain:	n/a	chr3:196159745-196159755
12	MAFK	chr3:196159453-196159807	HepG2	liver:	n/a	chr3:196159632-196159646 chr3:196159633-196159644 chr3:196159625-196159642
13	STAT5A	chr3:196158897-196160070	GM12878	blood:	n/a	n/a
14	POLR2A	chr3:196159032-196159761	GM18951	blood:	n/a	n/a
15	POLR2A	chr3:196158923-196159774	U87	brain:	n/a	n/a
16	PBX3	chr3:196159051-196160060	SK-N-SH	brain:	n/a	n/a
17	CHD2	chr3:196158924-196159895	GM12878	blood:	n/a	n/a
18	POLR2A	chr3:196158977-196159976	SK-N-SH	brain:	n/a	n/a
19	HCFC1	chr3:196158802-196159805	K562	blood:	n/a	n/a
20	EBF1	chr3:196159372-196159877	GM12878	blood:	n/a	n/a
21	WRNIP1	chr3:196159486-196159960	GM12878	blood:	n/a	n/a
22	POLR2A	chr3:196159015-196159783	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr3:196158952-196159837	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr3:196158820-196159928	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr3:196158923-196159792	U87	brain:	n/a	n/a
26	ATF2	chr3:196159393-196159853	GM12878	blood:	n/a	n/a
27	MXI1	chr3:196157710-196160611	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr3:196159021-196159852	PBDE	blood:	n/a	n/a
29	PBX3	chr3:196159211-196159944	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr3:196158983-196159811	GM12878	blood:	n/a	n/a
31	POLR2A	chr3:196158910-196159843	GM12892	blood:	n/a	n/a
32	BCLAF1	chr3:196158460-196159984	GM12878	blood:	n/a	chr3:196158544-196158553
33	POLR2A	chr3:196158954-196159792	MCF-7	breast:	n/a	n/a
34	POLR2A	chr3:196158972-196159975	PANC-1	pancreas:	n/a	n/a
35	CBX3	chr3:196159037-196159890	K562	blood:	n/a	n/a
36	HA-E2F1	chr3:196159289-196159747	MCF-7	breast:	n/a	n/a
37	SMC3	chr3:196159035-196159821	K562	blood:	n/a	n/a
38	POLR2A	chr3:196158000-196160091	SK-N-MC	brain:	n/a	n/a
39	TAF1	chr3:196158817-196160018	ECC-1	luminal epithelium:	n/a	n/a
40	MTA3	chr3:196157943-196160548	GM12878	blood:	n/a	n/a
41	ATF2	chr3:196159290-196159854	GM12878	blood:	n/a	n/a
42	ARID3A	chr3:196159223-196159917	HepG2	liver:	n/a	n/a
43	MAZ	chr3:196158487-196159945	HepG2	liver:	n/a	chr3:196159745-196159755 chr3:196159009-196159019 chr3:196159007-196159017 chr3:196158946-196158956
44	NFIC	chr3:196159036-196159914	GM12878	blood:	n/a	n/a
45	MAX	chr3:196158380-196159853	ECC-1	luminal epithelium:	n/a	chr3:196159745-196159755 chr3:196159009-196159019 chr3:196159007-196159017 chr3:196158946-196158956
46	POLR2A	chr3:196158209-196159822	GM19193	blood:	n/a	n/a
47	TBP	chr3:196158065-196159827	K562	blood:	n/a	n/a
48	POLR2A	chr3:196158085-196159783	K562	blood:	n/a	n/a
49	REST	chr3:196158939-196159807	H1-neurons	neurons:	n/a	chr3:196159503-196159516
50	POLR2A	chr3:196158997-196159935	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:196159742-196159792	HRE	kidney:	n/a
2	chr3:196159742-196159792	GM19239	blood:	n/a
3	chr3:196159742-196159792	NH-A	brain:	n/a
4	chr3:196159742-196159792	PANC-1	pancreas:	n/a
5	chr3:196159742-196159792	Hepatocyte	liver:	n/a
6	chr3:196159742-196159792	HNPCEpiC	eye:	n/a
7	chr3:196159742-196159792	PrEC	prostate:	n/a
8	chr3:196159742-196159792	HCT-116	colon:	n/a
9	chr3:196159742-196159792	AG09319	gingival:	n/a
10	chr3:196159742-196159792	NT2-D1	testis:	n/a
11	chr3:196159742-196159792	LNCaP	prostate:	n/a
12	chr3:196159742-196159792	HCM	heart:	n/a
13	chr3:196159742-196159792	K562	blood:	n/a
14	chr3:196159742-196159792	ECC-1	luminal epithelium:	n/a
15	chr3:196159742-196159792	HEK293	kidney:	embryo
16	chr3:196159742-196159792	A549	lung:	n/a
17	chr3:196159742-196159792	HAEpiC	amniotic membrane:	n/a
18	chr3:196159742-196159792	HEEpiC	esophagus:	n/a
19	chr3:196159742-196159792	Caco-2	colon:	n/a
20	chr3:196159742-196159792	AG04449	skin:	fetal
21	chr3:196159742-196159792	NHBE	bronchial:	n/a
22	chr3:196159742-196159792	HCPEpiC	choroid plexus:	n/a
23	chr3:196159742-196159792	HUVEC	blood vessel:	n/a
24	chr3:196159742-196159792	HMEC	breast:	n/a
25	chr3:196159742-196159792	NHDF-neo	bronchial:	n/a
26	chr3:196159742-196159792	HRCEpiC	kidney:	n/a
27	chr3:196159742-196159792	SKMC	muscle:	n/a
28	chr3:196159742-196159792	AG10803	skin:	n/a
29	chr3:196159742-196159792	SK-N-SH	brain:	n/a
30	chr3:196159742-196159792	Hela-S3	cervix:	n/a
31	chr3:196159742-196159792	HepG2	liver:	n/a
32	chr3:196159742-196159792	ProgFib	skin:	n/a
33	chr3:196159742-196159792	BJ	skin:	n/a
34	chr3:196159742-196159792	U87	brain:	n/a
35	chr3:196159742-196159792	HIPEpiC	eye:	n/a
36	chr3:196159742-196159792	RPTEC	kidney:	n/a
37	chr3:196159742-196159792	H1-hESC	embryonic stem cell:	embryo
38	chr3:196159742-196159792	NB4	blood:	n/a
39	chr3:196159742-196159792	IMR90	lung:	fetal
40	chr3:196159742-196159792	AG04450	lung:	fetal
41	chr3:196159742-196159792	BE2_C	brain:	n/a
42	chr3:196159742-196159792	T-47D	breast:	n/a
43	chr3:196159742-196159792	MCF10A-Er-Src	breast:	n/a
44	chr3:196159742-196159792	SAEC	small airway:	n/a
45	chr3:196159742-196159792	GM06990	blood:	n/a
46	chr3:196159742-196159792	HCF	heart:	n/a
47	chr3:196159742-196159792	MCF-7	breast:	n/a
48	chr3:196159742-196159792	Jurkat	blood:	n/a
49	chr3:196159742-196159792	HL-60	blood:	n/a
50	chr3:196159742-196159792	HRPEpiC	eye:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:196141592..196145403-chr3:196157124..196159775,4	MCF-7	breast:
2	chr3:196062778..196068235-chr3:196157235..196160927,9	K562	blood:
3	chr3:196062836..196066201-chr3:196157853..196162484,6	K562	blood:
4	chr3:196014592..196016192-chr3:196157861..196160786,2	MCF-7	breast:
5	chr3:196146851..196150238-chr3:196157711..196160603,3	MCF-7	breast:
6	chr3:196156342..196159977-chr3:196227568..196231019,3	MCF-7	breast:
7	chr3:196068323..196070202-chr3:196157580..196160834,5	MCF-7	breast:
8	chr15:41056175..41056885-chr3:196159214..196159919,2	Hela-S3	cervix:
9	chr3:195933131..195935157-chr3:196159454..196161102,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXO45-2	chr3:196158235-196160242	ENSG00000225822.3

No data

Variant related genes	Relation type
UBXN7	TF binding region
UBXN7	CpG island
ENSG00000163961	Chromatin interaction
ENSG00000212146	Chromatin interaction
ENSG00000226345	Chromatin interaction
ENSG00000161217	Chromatin interaction
ENSG00000145107	Chromatin interaction
ENSG00000273331	Chromatin interaction
ENSG00000137880	Chromatin interaction
ENSG00000163960	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv878182	chr3:195974181-196228360	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv1003764	chr3:196028141-196190687	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv536895	chr3:196028141-196190687	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	esv1844755	chr3:196057616-196190350	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv469831	chr3:196071603-196235225	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	nsv482542	chr3:196071603-196235225	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv878183	chr3:196072442-196181228	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
14	esv2752687	chr3:196147690-196286690	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
15	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
16	nsv878184	chr3:196158773-196191434	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv878185	chr3:196158773-196199204	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv878186	chr3:196158773-196219794	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr3:196156800-196160400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr3:196156800-196160600	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr3:196157000-196160000	Active TSS	GM12878-XiMat	blood
4	chr3:196157000-196160200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:196157200-196160000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:196157200-196160200	Active TSS	NHLF	lung
7	chr3:196157400-196160200	Active TSS	NHDF-Ad	bronchial
8	chr3:196157400-196160600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr3:196157600-196159800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:196157600-196159800	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr3:196157600-196160200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr3:196157600-196160200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:196157600-196160200	Active TSS	Brain Anterior Caudate	brain
14	chr3:196157600-196160200	Active TSS	Fetal Intestine Small	intestine
15	chr3:196157600-196160200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr3:196157600-196160400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr3:196157600-196160400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr3:196157600-196160400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:196157600-196160400	Active TSS	Brain Angular Gyrus	brain
20	chr3:196157600-196160400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:196157600-196160400	Active TSS	Fetal Intestine Large	intestine
22	chr3:196157600-196160400	Active TSS	Right Atrium	heart
23	chr3:196157600-196160400	Active TSS	Stomach Smooth Muscle	stomach
24	chr3:196157600-196160400	Active TSS	HSMM	muscle
25	chr3:196157600-196160600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:196157600-196160600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:196157800-196159800	Active TSS	Fetal Muscle Leg	muscle
28	chr3:196157800-196159800	Active TSS	Fetal Thymus	thymus
29	chr3:196157800-196160200	Active TSS	H9 Cell Line	embryonic stem cell
30	chr3:196157800-196160200	Active TSS	Brain Hippocampus Middle	brain
31	chr3:196157800-196160200	Active TSS	Colon Smooth Muscle	Colon
32	chr3:196157800-196160200	Active TSS	Fetal Stomach	stomach
33	chr3:196157800-196160200	Active TSS	Ovary	ovary
34	chr3:196157800-196160400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:196157800-196160400	Active TSS	A549	lung
36	chr3:196157800-196160600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:196157800-196160600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:196158000-196159800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:196158000-196160000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:196158000-196160000	Active TSS	Fetal Muscle Trunk	muscle
41	chr3:196158000-196160000	Active TSS	Left Ventricle	heart
42	chr3:196158000-196160000	Active TSS	Placenta Amnion	Placenta Amnion
43	chr3:196158000-196160000	Active TSS	Psoas Muscle	Psoas
44	chr3:196158000-196160200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr3:196158000-196160200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:196158000-196160200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:196158000-196160200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:196158000-196160200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:196158000-196160200	Active TSS	Brain Substantia Nigra	brain
50	chr3:196158000-196160200	Active TSS	Right Ventricle	heart

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