Variant report

Variant	rs9681141
Chromosome Location	chr3:43729832-43729833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:43729587-43730154	K562	blood:	n/a	n/a
2	JUND	chr3:43729827-43730125	K562	blood:	n/a	n/a
3	TEAD4	chr3:43729651-43730180	K562	blood:	n/a	n/a
4	TAL1	chr3:43729818-43730103	K562	blood:	n/a	n/a
5	MYC	chr3:43729733-43730134	K562	blood:	n/a	n/a
6	POLR2A	chr3:43729780-43730565	K562	blood:	n/a	n/a
7	MAX	chr3:43729772-43730119	K562	blood:	n/a	n/a
8	MAZ	chr3:43729514-43730125	K562	blood:	n/a	n/a
9	POLR2A	chr3:43727464-43729949	K562	blood:	n/a	n/a
10	RCOR1	chr3:43729766-43730130	K562	blood:	n/a	n/a
11	BHLHE40	chr3:43728189-43730189	K562	blood:	n/a	n/a
12	EP300	chr3:43729830-43730110	K562	blood:	n/a	n/a
13	TBP	chr3:43729761-43730129	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:43729809-43729859	Caco-2	colon:	n/a
2	chr3:43729809-43729859	HMEC	breast:	n/a
3	chr3:43729809-43729859	HL-60	blood:	n/a
4	chr3:43729809-43729859	U87	brain:	n/a
5	chr3:43729809-43729859	IMR90	lung:	fetal
6	chr3:43729809-43729859	ECC-1	luminal epithelium:	n/a
7	chr3:43729809-43729859	AG04450	lung:	fetal
8	chr3:43729809-43729859	HEEpiC	esophagus:	n/a
9	chr3:43729809-43729859	GM19239	blood:	n/a
10	chr3:43729809-43729859	PFSK-1	brain:	n/a
11	chr3:43729809-43729859	NH-A	brain:	n/a
12	chr3:43729809-43729859	HCF	heart:	n/a
13	chr3:43729809-43729859	PrEC	prostate:	n/a
14	chr3:43729809-43729859	HRCEpiC	kidney:	n/a
15	chr3:43729809-43729859	HEK293	kidney:	embryo
16	chr3:43729809-43729859	Hela-S3	cervix:	n/a
17	chr3:43729809-43729859	HAEpiC	amniotic membrane:	n/a
18	chr3:43729809-43729859	SK-N-MC	brain:	n/a
19	chr3:43729809-43729859	HNPCEpiC	eye:	n/a
20	chr3:43729809-43729859	GM12892	blood:	n/a
21	chr3:43729809-43729859	AoSMC	blood vessel:	n/a
22	chr3:43729809-43729859	AG09319	gingival:	n/a
23	chr3:43729809-43729859	NB4	blood:	n/a
24	chr3:43729809-43729859	ovcar-3	ovarian:	n/a
25	chr3:43729809-43729859	CMK	blood:	n/a
26	chr3:43729809-43729859	BJ	skin:	n/a
27	chr3:43729809-43729859	HepG2	liver:	n/a
28	chr3:43729809-43729859	HRE	kidney:	n/a
29	chr3:43729809-43729859	SAEC	small airway:	n/a
30	chr3:43729809-43729859	LNCaP	prostate:	n/a
31	chr3:43729809-43729859	AG04449	skin:	fetal
32	chr3:43729809-43729859	RPTEC	kidney:	n/a
33	chr3:43729809-43729859	SK-N-SH_RA	brain:	n/a
34	chr3:43729809-43729859	HCM	heart:	n/a
35	chr3:43729809-43729859	MCF10A-Er-Src	breast:	n/a
36	chr3:43729809-43729859	BE2_C	brain:	n/a
37	chr3:43729809-43729859	HRPEpiC	eye:	n/a
38	chr3:43729809-43729859	Hepatocyte	liver:	n/a
39	chr3:43729809-43729859	HCT-116	colon:	n/a
40	chr3:43729809-43729859	HPAEpiC	pulmonary alveolar:	n/a
41	chr3:43729809-43729859	ProgFib	skin:	n/a
42	chr3:43729809-43729859	K562	blood:	n/a
43	chr3:43729809-43729859	GM06990	blood:	n/a
44	chr3:43729809-43729859	NHDF-neo	bronchial:	n/a
45	chr3:43729809-43729859	SK-N-SH	brain:	n/a
46	chr3:43729809-43729859	SKMC	muscle:	n/a
47	chr3:43729809-43729859	HUVEC	blood vessel:	n/a
48	chr3:43729809-43729859	GM12878	blood:	n/a
49	chr3:43729809-43729859	T-47D	breast:	n/a
50	chr3:43729809-43729859	GM12891	blood:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:43677251..43683206-chr3:43726914..43734554,14	K562	blood:
2	chr3:43668066..43670803-chr3:43728566..43730812,2	K562	blood:
3	chr3:43729811..43732596-chr3:43758996..43761442,2	K562	blood:
4	chr3:43716311..43718019-chr3:43727681..43730024,2	K562	blood:
5	chr3:43685158..43687784-chr3:43729150..43731026,2	MCF-7	breast:
6	chr3:43713207..43714769-chr3:43727040..43729951,2	K562	blood:
7	chr3:43659494..43665311-chr3:43727005..43736111,18	K562	blood:
8	chr3:43716954..43719427-chr3:43728298..43730262,2	MCF-7	breast:
9	chr3:43689583..43692223-chr3:43727679..43730041,2	K562	blood:
10	chr3:43687935..43690022-chr3:43729079..43730587,2	K562	blood:
11	chr3:43660817..43665304-chr3:43729750..43735886,13	K562	blood:

No data

Variant related genes	Relation type
ABHD5	TF binding region
ABHD5	CpG island
ENSG00000160746	Chromatin interaction
ENSG00000011198	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2068969	1.00[MEX][hapmap]
rs6800391	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs7632220	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap]

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	nsv834673	chr3:43622985-43799876	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv3345913	chr3:43698997-43729867	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43727800-43731600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:43728000-43731600	Weak transcription	Pancreas	Pancrea
3	chr3:43728200-43730400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:43728200-43731200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:43728200-43731800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:43728400-43730800	Weak transcription	Brain Angular Gyrus	brain
7	chr3:43728600-43731400	Weak transcription	Fetal Stomach	stomach
8	chr3:43728800-43731400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:43728800-43731600	Weak transcription	Psoas Muscle	Psoas
10	chr3:43729000-43731200	Weak transcription	Fetal Brain Male	brain
11	chr3:43729000-43731600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr3:43729000-43731600	Weak transcription	Left Ventricle	heart
13	chr3:43729200-43731400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:43729200-43731800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:43729600-43730400	Genic enhancers	K562	blood
16	chr3:43729600-43730800	Enhancers	Gastric	stomach
17	chr3:43729600-43731200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:43729800-43730200	Enhancers	Brain Inferior Temporal Lobe	brain

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