Variant report

Variant	rs369100145
Chromosome Location	chr3:150127569-150127570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:174)
CpG islands
(count:61)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:174 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr3:150127267-150128025	K562	blood:	n/a	n/a
2	USF2	chr3:150125616-150128150	GM12878	blood:	n/a	chr3:150126547-150126563 chr3:150125747-150125758
3	MYC	chr3:150127547-150127582	MCF-7	breast:	n/a	n/a
4	MAX	chr3:150125067-150129102	A549	lung:	n/a	chr3:150125747-150125757
5	MAX	chr3:150127387-150128470	K562	blood:	n/a	n/a
6	RCOR1	chr3:150124635-150128185	K562	blood:	n/a	n/a
7	RUNX3	chr3:150127518-150128198	GM12878	blood:	n/a	n/a
8	CTCF	chr3:150127474-150128293	K562	blood:	n/a	n/a
9	CTCF	chr3:150127480-150127630	GM12865	blood:	n/a	n/a
10	TAF1	chr3:150127372-150128203	H1-neurons	neurons:	n/a	n/a
11	MXI1	chr3:150125032-150131571	SK-N-SH	brain:	n/a	chr3:150130450-150130459
12	POLR2A	chr3:150125375-150129053	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr3:150124962-150128050	U87	brain:	n/a	n/a
14	CTCF	chr3:150127255-150129086	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr3:150125311-150128440	Hela-S3	cervix:	n/a	n/a
16	RAD21	chr3:150127527-150128291	A549	lung:	n/a	n/a
17	CTCF	chr3:150127529-150128197	MCF-7	breast:	n/a	n/a
18	CTCF	chr3:150127299-150128259	GM12878	blood:	n/a	n/a
19	FOS	chr3:150127541-150128064	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr3:150124821-150129086	SK-N-MC	brain:	n/a	n/a
21	RAD21	chr3:150126996-150129135	SK-N-SH	brain:	n/a	n/a
22	JUN	chr3:150124199-150130937	K562	blood:	n/a	chr3:150126610-150126621 chr3:150126364-150126373 chr3:150126007-150126016 chr3:150126003-150126016 chr3:150125540-150125551 chr3:150125537-150125549 chr3:150130480-150130492 chr3:150127088-150127099
23	MAX	chr3:150125252-150128931	NB4	blood:	n/a	chr3:150125747-150125757
24	MYC	chr3:150127498-150128478	K562	blood:	n/a	n/a
25	TAF1	chr3:150125490-150127699	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr3:150125260-150128683	K562	blood:	n/a	n/a
27	SIN3AK20	chr3:150125736-150129137	MCF-7	breast:	n/a	n/a
28	POLR2A	chr3:150125400-150128190	HepG2	liver:	n/a	n/a
29	ELF1	chr3:150125888-150128439	GM12878	blood:	n/a	chr3:150126312-150126321 chr3:150126308-150126320
30	POLR2A	chr3:150125575-150128772	K562	blood:	n/a	n/a
31	CTCF	chr3:150127420-150127570	BJ	skin:	n/a	n/a
32	POLR2A	chr3:150127282-150128311	HUVEC	blood vessel:	n/a	n/a
33	MAX	chr3:150127413-150128821	K562	blood:	n/a	n/a
34	SIN3AK20	chr3:150127429-150128458	K562	blood:	n/a	n/a
35	POLR2A	chr3:150127449-150128226	K562	blood:	n/a	n/a
36	REST	chr3:150125336-150128406	H1-neurons	neurons:	n/a	chr3:150126165-150126178 chr3:150126175-150126193 chr3:150126518-150126531 chr3:150126828-150126846
37	POLR2A	chr3:150127392-150129039	GM12892	blood:	n/a	n/a
38	CTCF	chr3:150127569-150128179	K562	blood:	n/a	n/a
39	POLR2A	chr3:150127497-150128205	PANC-1	pancreas:	n/a	n/a
40	POLR2A	chr3:150127489-150129150	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr3:150125311-150128930	GM12878	blood:	n/a	n/a
42	BHLHE40	chr3:150127541-150128389	HepG2	liver:	n/a	n/a
43	SIN3AK20	chr3:150125117-150129299	MCF-7	breast:	n/a	n/a
44	POLR2A	chr3:150127449-150128229	HUVEC	blood vessel:	n/a	n/a
45	EGR1	chr3:150127391-150127655	K562	blood:	n/a	chr3:150127519-150127533
46	POLR2A	chr3:150125736-150128935	MCF-7	breast:	n/a	n/a
47	POLR2A	chr3:150125121-150129116	PBDE	blood:	n/a	n/a
48	ZBTB7A	chr3:150127563-150128017	ECC-1	luminal epithelium:	n/a	n/a
49	MYC	chr3:150127553-150129010	K562	blood:	n/a	n/a
50	CHD2	chr3:150127504-150128082	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:150127556-150127606	GM06990	blood:	n/a
2	chr3:150127556-150127606	NB4	blood:	n/a
3	chr3:150127556-150127606	GM12892	blood:	n/a
4	chr3:150127556-150127606	Hepatocyte	liver:	n/a
5	chr3:150127556-150127606	SAEC	small airway:	n/a
6	chr3:150127556-150127606	HEEpiC	esophagus:	n/a
7	chr3:150127556-150127606	LNCaP	prostate:	n/a
8	chr3:150127556-150127606	IMR90	lung:	fetal
9	chr3:150127556-150127606	BE2_C	brain:	n/a
10	chr3:150127556-150127606	HPAEpiC	pulmonary alveolar:	n/a
11	chr3:150127556-150127606	GM19239	blood:	n/a
12	chr3:150127556-150127606	SK-N-SH	brain:	n/a
13	chr3:150127556-150127606	HCPEpiC	choroid plexus:	n/a
14	chr3:150127556-150127606	HNPCEpiC	eye:	n/a
15	chr3:150127556-150127606	CMK	blood:	n/a
16	chr3:150127556-150127606	HepG2	liver:	n/a
17	chr3:150127556-150127606	H1-hESC	embryonic stem cell:	embryo
18	chr3:150127556-150127606	Hela-S3	cervix:	n/a
19	chr3:150127556-150127606	AG10803	skin:	n/a
20	chr3:150127556-150127606	AG04449	skin:	fetal
21	chr3:150127556-150127606	AG09309	skin:	n/a
22	chr3:150127556-150127606	NHDF-neo	bronchial:	n/a
23	chr3:150127556-150127606	ProgFib	skin:	n/a
24	chr3:150127556-150127606	HCM	heart:	n/a
25	chr3:150127556-150127606	GM12891	blood:	n/a
26	chr3:150127556-150127606	PrEC	prostate:	n/a
27	chr3:150127556-150127606	HRE	kidney:	n/a
28	chr3:150127556-150127606	SK-N-SH_RA	brain:	n/a
29	chr3:150127556-150127606	PFSK-1	brain:	n/a
30	chr3:150127556-150127606	Jurkat	blood:	n/a
31	chr3:150127556-150127606	AG09319	gingival:	n/a
32	chr3:150127556-150127606	BJ	skin:	n/a
33	chr3:150127556-150127606	HCT-116	colon:	n/a
34	chr3:150127556-150127606	HRPEpiC	eye:	n/a
35	chr3:150127556-150127606	HUVEC	blood vessel:	n/a
36	chr3:150127556-150127606	Caco-2	colon:	n/a
37	chr3:150127556-150127606	MCF10A-Er-Src	breast:	n/a
38	chr3:150127556-150127606	K562	blood:	n/a
39	chr3:150127556-150127606	HCF	heart:	n/a
40	chr3:150127556-150127606	AoSMC	blood vessel:	n/a
41	chr3:150127556-150127606	PANC-1	pancreas:	n/a
42	chr3:150127556-150127606	GM12878	blood:	n/a
43	chr3:150127556-150127606	U87	brain:	n/a
44	chr3:150127556-150127606	HIPEpiC	eye:	n/a
45	chr3:150127556-150127606	HL-60	blood:	n/a
46	chr3:150127556-150127606	NH-A	brain:	n/a
47	chr3:150127556-150127606	NT2-D1	testis:	n/a
48	chr3:150127556-150127606	AG04450	lung:	fetal
49	chr3:150127556-150127606	SKMC	muscle:	n/a
50	chr3:150127556-150127606	ECC-1	luminal epithelium:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:149953695..149960076-chr3:150124777..150129995,22	MCF-7	breast:
2	chr3:150106944..150109021-chr3:150126806..150128575,2	K562	blood:
3	chr2:242911446..242913304-chr3:150126973..150128473,2	MCF-7	breast:
4	chr3:150002946..150005650-chr3:150125289..150128542,3	K562	blood:
5	chr3:150122822..150130151-chr3:150261910..150267967,8	K562	blood:
6	chr3:150124697..150131961-chr3:150259924..150266159,12	MCF-7	breast:
7	chr3:150124105..150129008-chr3:150174357..150179992,6	MCF-7	breast:
8	chr3:150121790..150130149-chr3:150138506..150143439,10	MCF-7	breast:
9	chr3:150003406..150008220-chr3:150125314..150128917,4	K562	blood:
10	chr3:150126707..150128602-chr3:150209463..150211558,2	MCF-7	breast:
11	chr3:150021138..150022143-chr3:150127362..150128418,4	MCF-7	breast:
12	chr3:150125257..150128558-chr3:150478258..150482422,4	K562	blood:
13	chr3:150124642..150128245-chr3:150263775..150265951,4	K562	blood:
14	chr3:150030571..150033361-chr3:150126551..150128588,2	K562	blood:
15	chr3:150127483..150128027-chr3:150213130..150214048,2	MCF-7	breast:
16	chr3:150004162..150006199-chr3:150125744..150127626,2	MCF-7	breast:
17	chr17:49198764..49199685-chr3:150127166..150127982,2	Hela-S3	cervix:
18	chr3:150003129..150006271-chr3:150124947..150129304,6	MCF-7	breast:
19	chr3:150097794..150100688-chr3:150126424..150128739,2	K562	blood:
20	chr3:149687952..149691068-chr3:150125127..150128175,3	MCF-7	breast:
21	chr3:149953873..149961412-chr3:150123750..150131229,19	MCF-7	breast:

No data

Variant related genes	Relation type
TSC22D2	TF binding region
TSC22D2	CpG island
ENSG00000237940	Chromatin interaction
ENSG00000070087	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000144895	Chromatin interaction
ENSG00000196428	Chromatin interaction
ENSG00000244541	Chromatin interaction
ENSG00000181788	Chromatin interaction
ENSG00000244265	Chromatin interaction
ENSG00000243550	Chromatin interaction
ENSG00000268175	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829755	chr3:149992023-150156001	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv1828464	chr3:150096071-150149868	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers 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	47 gene(s)	inside rSNPs	diseases
3	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1818335	chr3:150122121-150128717	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv14316	chr3:150124574-150128485	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	43 gene(s)	inside rSNPs	diseases
6	esv1834500	chr3:150125721-150128227	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	43 gene(s)	inside rSNPs	diseases
7	esv1835715	chr3:150125721-150128227	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	43 gene(s)	inside rSNPs	diseases
8	esv1837405	chr3:150125721-150128227	ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	43 gene(s)	inside rSNPs	diseases
9	esv1799287	chr3:150125721-150147118	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
10	nsv592033	chr3:150126170-150128227	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
11	nsv592034	chr3:150126351-150128227	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	40 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	chr3:150124600-150130600	Active TSS	Aorta	Aorta
2	chr3:150124600-150132200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:150124600-150133000	Active TSS	Fetal Kidney	kidney
4	chr3:150124600-150133000	Active TSS	Right Atrium	heart
5	chr3:150124800-150128600	Active TSS	HSMM	muscle
6	chr3:150124800-150128800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:150124800-150129200	Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr3:150124800-150133600	Active TSS	Stomach Smooth Muscle	stomach
9	chr3:150125000-150127600	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr3:150125000-150128000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:150125000-150128200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:150125000-150128400	Active TSS	Right Ventricle	heart
13	chr3:150125000-150128600	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr3:150125000-150128600	Active TSS	Fetal Muscle Trunk	muscle
15	chr3:150125000-150128600	Active TSS	Fetal Muscle Leg	muscle
16	chr3:150125000-150128600	Active TSS	K562	blood
17	chr3:150125000-150129200	Active TSS	Brain Substantia Nigra	brain
18	chr3:150125000-150129200	Active TSS	Duodenum Mucosa	Duodenum
19	chr3:150125000-150130200	Active TSS	Brain Anterior Caudate	brain
20	chr3:150125000-150130400	Active TSS	Liver	Liver
21	chr3:150125000-150130600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:150125000-150130600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr3:150125000-150130600	Active TSS	Psoas Muscle	Psoas
24	chr3:150125000-150130800	Active TSS	Rectal Smooth Muscle	rectum
25	chr3:150125000-150131200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr3:150125000-150131200	Active TSS	Placenta	Placenta
27	chr3:150125000-150131600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:150125000-150132400	Active TSS	Fetal Stomach	stomach
29	chr3:150125000-150132600	Active TSS	HSMMtube	muscle
30	chr3:150125000-150132800	Active TSS	Fetal Intestine Large	intestine
31	chr3:150125000-150133200	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr3:150125000-150137400	Active TSS	GM12878-XiMat	blood
33	chr3:150125200-150128200	Active TSS	Colonic Mucosa	Colon
34	chr3:150125200-150128400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:150125200-150128400	Active TSS	Osteobl	bone
36	chr3:150125200-150128600	Active TSS	Primary T cells fromperipheralblood	blood
37	chr3:150125200-150128600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr3:150125200-150128600	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr3:150125200-150128600	Active TSS	A549	lung
40	chr3:150125200-150128600	Active TSS	NHDF-Ad	bronchial
41	chr3:150125200-150128800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:150125200-150128800	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr3:150125200-150129600	Active TSS	Fetal Brain Female	brain
44	chr3:150125200-150130600	Active TSS	Colon Smooth Muscle	Colon
45	chr3:150125200-150130600	Active TSS	Left Ventricle	heart
46	chr3:150125200-150130600	Active TSS	Ovary	ovary
47	chr3:150125200-150131200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr3:150125200-150131200	Active TSS	H9 Cell Line	embryonic stem cell
49	chr3:150125200-150131200	Active TSS	Stomach Mucosa	stomach
50	chr3:150125200-150132400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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