Variant report

Variant	rs9881242
Chromosome Location	chr3:134032225-134032226
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:157)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:157 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:134032100-134032250	AG09309	skin:	n/a	n/a
2	SP1	chr3:134031992-134032579	A549	lung:	n/a	chr3:134031993-134032002 chr3:134031992-134032001 chr3:134032263-134032274
3	SP1	chr3:134032017-134032542	H1-hESC	embryonic stem cell:	n/a	chr3:134032263-134032274
4	CTCF	chr3:134032012-134032323	A549	lung:	n/a	n/a
5	CREB1	chr3:134032086-134032613	A549	lung:	n/a	n/a
6	CTCF	chr3:134032080-134032230	GM12872	blood:	n/a	n/a
7	CTCF	chr3:134032125-134032237	Pancreas_OC	pancreas:	n/a	n/a
8	RAD21	chr3:134031999-134032537	HepG2	liver:	n/a	n/a
9	TAF1	chr3:134032101-134032753	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr3:134032181-134032581	HUVEC	blood vessel:	n/a	n/a
11	HDAC2	chr3:134032155-134032526	HepG2	liver:	n/a	n/a
12	CTCF	chr3:134032080-134032230	HepG2	liver:	n/a	n/a
13	POLR2A	chr3:134032030-134033487	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr3:134032100-134032250	GM12871	blood:	n/a	n/a
15	CTCF	chr3:134032089-134032241	GM12891	blood:	n/a	n/a
16	CTCF	chr3:134032100-134032250	GM12870	blood:	n/a	n/a
17	CTCF	chr3:134032070-134032315	MCF-7	breast:	n/a	n/a
18	POLR2A	chr3:134031937-134032574	HCT-116	colon:	n/a	n/a
19	POLR2A	chr3:134032133-134034252	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr3:134032212-134032614	HCT-116	colon:	n/a	n/a
21	CTCF	chr3:134032008-134032301	T-47D	breast:	n/a	n/a
22	GATA3	chr3:134032027-134033237	A549	lung:	n/a	chr3:134032561-134032571
23	CTCF	chr3:134032075-134032245	Gliobla	brain:	n/a	n/a
24	CTCF	chr3:134032080-134032230	SAEC	small airway:	n/a	n/a
25	CTCF	chr3:134032100-134032250	AG09319	gingival:	n/a	n/a
26	NR3C1	chr3:134032062-134033091	A549	lung:	n/a	chr3:134032139-134032152
27	TEAD4	chr3:134032007-134032731	H1-hESC	embryonic stem cell:	n/a	chr3:134032353-134032362
28	CTCF	chr3:134032080-134032230	AG04449	skin:	n/a	n/a
29	POLR2A	chr3:134032166-134032823	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr3:134032080-134032230	AoAF	blood vessel:	n/a	n/a
31	CTCF	chr3:134032120-134032270	RPTEC	kidney:	n/a	n/a
32	CTCF	chr3:134032100-134032250	HMEC	breast:	n/a	n/a
33	CTCF	chr3:134032100-134032250	HRE	kidney:	n/a	n/a
34	POLR2A	chr3:134032210-134033123	HepG2	liver:	n/a	n/a
35	RAD21	chr3:134031829-134032777	HCT-116	colon:	n/a	n/a
36	RAD21	chr3:134031861-134032643	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr3:134032117-134032637	HUVEC	blood vessel:	n/a	n/a
38	RAD21	chr3:134032034-134032460	HepG2	liver:	n/a	n/a
39	CTCF	chr3:134032080-134032230	MCF-7	breast:	n/a	n/a
40	RAD21	chr3:134032057-134032457	HepG2	liver:	n/a	n/a
41	CTCF	chr3:134032033-134032396	HepG2	liver:	n/a	n/a
42	CTCF	chr3:134032029-134032378	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr3:134032100-134032250	NHLF	lung:	n/a	n/a
44	POLR2A	chr3:134032143-134032750	A549	lung:	n/a	n/a
45	NR3C1	chr3:134032129-134032552	ECC-1	luminal epithelium:	n/a	chr3:134032139-134032152
46	SIN3A	chr3:134032054-134032764	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr3:134032140-134032290	AG04450	lung:	n/a	n/a
48	CTCF	chr3:134032100-134032250	HepG2	liver:	n/a	n/a
49	CTCF	chr3:134032087-134032244	Kidney_OC	kidney:	n/a	n/a
50	TEAD4	chr3:134032059-134032660	A549	lung:	n/a	chr3:134032353-134032362

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:134031946..134032540-chr3:134070876..134071500,2	MCF-7	breast:
2	chr3:134024378..134037377-chr3:134063304..134080412,83	MCF-7	breast:
3	chr3:134024307..134037207-chr3:134080573..134100993,88	MCF-7	breast:
4	chr3:134027625..134034860-chr3:134199305..134206618,11	MCF-7	breast:
5	chr3:133969328..133972317-chr3:134030794..134032589,3	MCF-7	breast:
6	chr3:134030467..134032307-chr3:134188090..134190697,3	MCF-7	breast:
7	chr3:134031725..134032254-chr3:134069181..134070038,2	MCF-7	breast:
8	chr3:134031765..134032298-chr3:134090449..134090996,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000240006	TF binding region
ENSG00000163785	Chromatin interaction
ENSG00000129055	Chromatin interaction
ENSG00000182923	Chromatin interaction
ENSG00000214289	Chromatin interaction
ENSG00000114019	Chromatin interaction
ENSG00000260633	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10935111	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134023800-134032400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:134026800-134032400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:134026800-134034800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:134027000-134032400	Enhancers	HSMMtube	muscle
5	chr3:134027000-134032400	Enhancers	NH-A	brain
6	chr3:134027400-134032400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:134027400-134032400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:134027400-134032400	Enhancers	Brain Substantia Nigra	brain
9	chr3:134027400-134032400	Enhancers	NHDF-Ad	bronchial
10	chr3:134027800-134032400	Weak transcription	Brain Angular Gyrus	brain
11	chr3:134029200-134032400	Enhancers	A549	lung
12	chr3:134029800-134032400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr3:134029800-134032400	Enhancers	NHLF	lung
14	chr3:134030000-134032400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:134030000-134032400	Enhancers	Fetal Heart	heart
16	chr3:134030000-134032400	Enhancers	Left Ventricle	heart
17	chr3:134030000-134032400	Enhancers	Lung	lung
18	chr3:134030000-134032600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:134030000-134037200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:134030200-134032600	Weak transcription	Fetal Kidney	kidney
21	chr3:134030200-134034000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:134030400-134032400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr3:134030800-134035000	Enhancers	Spleen	Spleen
24	chr3:134031000-134032400	Enhancers	HUVEC	blood vessel
25	chr3:134031200-134032400	Weak transcription	Gastric	stomach
26	chr3:134031400-134032400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:134031400-134032400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:134031400-134032400	Active TSS	Primary hematopoietic stem cells	blood
29	chr3:134031400-134032400	Weak transcription	Aorta	Aorta
30	chr3:134031400-134032600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr3:134031400-134032800	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr3:134031400-134032800	Bivalent Enhancer	Primary B cells from cord blood	blood
33	chr3:134031600-134032400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
34	chr3:134031600-134032400	Active TSS	Colon Smooth Muscle	Colon
35	chr3:134031600-134032400	Enhancers	Fetal Lung	lung
36	chr3:134031600-134032400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr3:134031600-134032600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr3:134031600-134032600	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
39	chr3:134031600-134032800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:134031600-134033000	Flanking Active TSS	Placenta	Placenta
41	chr3:134031600-134033800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:134031800-134032400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr3:134031800-134032400	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr3:134031800-134032400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:134031800-134032400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr3:134031800-134032400	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr3:134031800-134032400	Active TSS	Esophagus	oesophagus
48	chr3:134031800-134032400	Active TSS	Fetal Intestine Small	intestine
49	chr3:134031800-134032400	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr3:134031800-134032600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell

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