Variant report

Variant	rs73010945
Chromosome Location	chr3:150482125-150482126
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:150476883-150483109	HepG2	liver:	n/a	n/a
2	NR2F2	chr3:150480551-150482176	MCF-7	breast:	n/a	n/a
3	POLR2A	chr3:150479714-150483006	GM18505	blood:	n/a	n/a
4	POLR2A	chr3:150479339-150482294	Hela-S3	cervix:	n/a	n/a
5	SIN3AK20	chr3:150480689-150482186	MCF-7	breast:	n/a	n/a
6	GATA3	chr3:150480575-150482134	MCF-7	breast:	n/a	n/a
7	POLR2A	chr3:150479623-150483088	GM19193	blood:	n/a	n/a
8	BCLAF1	chr3:150480702-150482136	GM12878	blood:	n/a	chr3:150480817-150480830
9	CTCF	chr3:150479370-150482380	A549	lung:	n/a	chr3:150480869-150480882
10	POLR2A	chr3:150478964-150483373	HepG2	liver:	n/a	n/a
11	POLR2A	chr3:150480547-150482133	HUVEC	blood vessel:	n/a	n/a
12	PML	chr3:150480524-150482232	GM12878	blood:	n/a	chr3:150481378-150481386 chr3:150481396-150481405
13	MYC	chr3:150480717-150482140	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr3:150480659-150482796	K562	blood:	n/a	n/a
15	POLR2A	chr3:150480711-150483145	HepG2	liver:	n/a	n/a
16	E2F6	chr3:150480818-150482131	A549	lung:	n/a	chr3:150480819-150480829
17	POLR2A	chr3:150480735-150482963	HepG2	liver:	n/a	n/a
18	MXI1	chr3:150477822-150483051	SK-N-SH	brain:	n/a	n/a
19	MBD4	chr3:150481439-150482248	HepG2	liver:	n/a	n/a
20	POLR2A	chr3:150479433-150482597	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr3:150482095-150482128	K562	blood:	n/a	n/a
22	MAX	chr3:150480618-150482155	HCT-116	colon:	n/a	n/a
23	POLR2A	chr3:150480701-150482963	HepG2	liver:	n/a	n/a
24	CTCF	chr3:150481552-150482155	MCF-7	breast:	n/a	n/a
25	MAX	chr3:150480724-150482132	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr3:150480701-150484604	GM12891	blood:	n/a	n/a
27	STAT5A	chr3:150480690-150482144	GM12878	blood:	n/a	n/a
28	RFX5	chr3:150480753-150482555	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr3:150479982-150482218	SK-N-SH	brain:	n/a	chr3:150480869-150480882
30	MYC	chr3:150480543-150482146	K562	blood:	n/a	n/a
31	MAX	chr3:150479456-150482134	MCF-7	breast:	n/a	n/a
32	MAX	chr3:150479390-150482214	A549	lung:	n/a	n/a
33	HCFC1	chr3:150479171-150482342	Hela-S3	cervix:	n/a	n/a
34	HEY1	chr3:150480568-150483101	HepG2	liver:	n/a	chr3:150480676-150480691
35	MXI1	chr3:150479400-150482134	Hela-S3	cervix:	n/a	n/a
36	SP1	chr3:150480840-150482146	A549	lung:	n/a	chr3:150481472-150481486
37	MBD4	chr3:150480922-150482493	HepG2	liver:	n/a	n/a
38	HA-E2F1	chr3:150480575-150482149	MCF-7	breast:	n/a	chr3:150480663-150480673 chr3:150480819-150480829
39	MAX	chr3:150480553-150482223	HCT-116	colon:	n/a	n/a
40	MYBL2	chr3:150480867-150482303	HepG2	liver:	n/a	n/a
41	POLR2A	chr3:150476896-150484835	GM12878	blood:	n/a	n/a
42	NFIC	chr3:150481045-150482193	GM12878	blood:	n/a	n/a
43	RAD21	chr3:150481024-150482153	MCF-7	breast:	n/a	chr3:150481507-150481519
44	MAX	chr3:150480652-150482145	MCF-7	breast:	n/a	n/a
45	MYC	chr3:150480346-150482602	A549	lung:	n/a	n/a
46	MXI1	chr3:150478984-150482211	IMR90	lung:	n/a	n/a
47	ZNF143	chr3:150481052-150482478	K562	blood:	n/a	chr3:150481561-150481571
48	POLR2A	chr3:150479427-150482694	IMR90	lung:	n/a	n/a
49	MTA3	chr3:150480709-150482146	GM12878	blood:	n/a	n/a
50	POLR2A	chr3:150476950-150483136	PBDE	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150318777..150323048-chr3:150479715..150482584,4	K562	blood:
2	chr20:55753885..55754468-chr3:150481272..150482133,2	MCF-7	breast:
3	chr3:150438835..150439759-chr3:150481383..150482353,4	MCF-7	breast:
4	chr22:37956970..37957729-chr3:150481295..150482246,2	Hela-S3	cervix:
5	chr3:150399970..150401503-chr3:150480432..150482241,2	K562	blood:
6	chr17:79825898..79826714-chr3:150481279..150482274,2	Hela-S3	cervix:
7	chr3:150319354..150323687-chr3:150477863..150484487,11	MCF-7	breast:
8	chr3:150421205..150424923-chr3:150480120..150484463,5	MCF-7	breast:
9	chr3:150261800..150265866-chr3:150477764..150484308,7	MCF-7	breast:
10	chr12:107364565..107365547-chr3:150481458..150482307,2	Hela-S3	cervix:
11	chr3:150125257..150128558-chr3:150478258..150482422,4	K562	blood:
12	chr3:150318641..150323079-chr3:150479217..150482794,6	MCF-7	breast:
13	chr3:150433681..150449199-chr3:150473254..150487048,35	MCF-7	breast:

No data

Variant related genes	Relation type
SIAH2	TF binding region
ENSG00000240137	Chromatin interaction
ENSG00000144895	Chromatin interaction
ENSG00000141522	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000151135	Chromatin interaction
ENSG00000163645	Chromatin interaction
ENSG00000244668	Chromatin interaction
ENSG00000196428	Chromatin interaction
ENSG00000198843	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72993405	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1820145	chr3:150478018-150487945	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	esv3420624	chr3:150478562-150482960	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150478000-150482200	Active TSS	Thymus	Thymus
2	chr3:150478200-150482200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:150478200-150482200	Active TSS	Right Ventricle	heart
4	chr3:150478200-150482200	Active TSS	NHDF-Ad	bronchial
5	chr3:150478200-150482400	Active TSS	Placenta	Placenta
6	chr3:150478200-150482400	Active TSS	GM12878-XiMat	blood
7	chr3:150478400-150482200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:150478400-150482200	Active TSS	HSMMtube	muscle
9	chr3:150478400-150482600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:150478600-150482200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr3:150478600-150482200	Active TSS	Aorta	Aorta
12	chr3:150478600-150482400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:150478600-150482600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:150478800-150482200	Active TSS	Psoas Muscle	Psoas
15	chr3:150478800-150482200	Active TSS	NHLF	lung
16	chr3:150479000-150482200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr3:150479000-150482200	Active TSS	Brain Germinal Matrix	brain
18	chr3:150479200-150482200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr3:150479200-150482200	Active TSS	Fetal Muscle Leg	muscle
20	chr3:150479200-150482200	Active TSS	A549	lung
21	chr3:150479200-150482400	Active TSS	Fetal Intestine Large	intestine
22	chr3:150479400-150482200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:150479400-150482200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:150479400-150482200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:150479400-150482200	Active TSS	Liver	Liver
26	chr3:150479400-150482200	Active TSS	Brain Substantia Nigra	brain
27	chr3:150479400-150482200	Active TSS	Colon Smooth Muscle	Colon
28	chr3:150479400-150482200	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr3:150479400-150482200	Active TSS	Fetal Brain Female	brain
30	chr3:150479400-150482200	Active TSS	Hela-S3	cervix
31	chr3:150479400-150482600	Active TSS	Stomach Smooth Muscle	stomach
32	chr3:150479600-150482200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr3:150479600-150482200	Active TSS	Adipose Nuclei	Adipose
34	chr3:150479600-150482200	Active TSS	Brain Angular Gyrus	brain
35	chr3:150479600-150482200	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr3:150479600-150482200	Active TSS	Fetal Lung	lung
37	chr3:150479600-150482400	Active TSS	Fetal Intestine Small	intestine
38	chr3:150479600-150482400	Active TSS	Spleen	Spleen
39	chr3:150479800-150482200	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr3:150479800-150482200	Active TSS	Brain Hippocampus Middle	brain
41	chr3:150480400-150482200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr3:150481400-150482200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr3:150481400-150482200	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr3:150481400-150482200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr3:150481400-150482200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:150481400-150482200	Active TSS	Fetal Brain Male	brain
47	chr3:150481400-150482200	Active TSS	Right Atrium	heart
48	chr3:150481400-150482200	Flanking Active TSS	HUVEC	blood vessel
49	chr3:150481400-150482400	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr3:150481400-150482600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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