Variant report

Variant	rs13032126
Chromosome Location	chr2:234108570-234108571
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr2:234108561-234108796	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr2:234108434-234108969	GM12878	blood:	n/a	n/a
3	CUX1	chr2:234108506-234108903	GM12878	blood:	n/a	n/a
4	RUNX3	chr2:234108423-234108714	GM12878	blood:	n/a	n/a
5	CTCF	chr2:234108500-234108650	GM12872	blood:	n/a	n/a
6	CTCF	chr2:234108485-234108824	GM12878	blood:	n/a	n/a
7	EBF1	chr2:234108352-234108780	GM12878	blood:	n/a	chr2:234108529-234108540
8	CTCF	chr2:234108480-234108630	HCT-116	colon:	n/a	n/a
9	CTCF	chr2:234108520-234108670	GM12878	blood:	n/a	n/a
10	EBF1	chr2:234108392-234108674	GM12878	blood:	n/a	chr2:234108529-234108540
11	NFIC	chr2:234108457-234109074	GM12878	blood:	n/a	n/a
12	CTCF	chr2:234108500-234108650	HAc	cerebellar:	n/a	n/a
13	ZNF384	chr2:234108526-234108604	GM12878	blood:	n/a	n/a
14	RCOR1	chr2:234108569-234108891	GM12878	blood:	n/a	n/a
15	CTCF	chr2:234108560-234108710	GM12878	blood:	n/a	n/a
16	CTCF	chr2:234108540-234108690	GM06990	blood:	n/a	n/a
17	CTCF	chr2:234108560-234108710	GM12875	blood:	n/a	n/a
18	RAD21	chr2:234108543-234108736	GM12878	blood:	n/a	n/a
19	CTCF	chr2:234108520-234108670	Hela-S3	cervix:	n/a	n/a
20	MTA3	chr2:234108377-234109299	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:234108509-234109324	GM12878	blood:	n/a	n/a
22	CTCF	chr2:234108540-234108690	GM12873	blood:	n/a	n/a
23	RUNX3	chr2:234108432-234108866	GM12878	blood:	n/a	n/a
24	YY1	chr2:234108506-234108854	GM12878	blood:	n/a	n/a
25	CTCF	chr2:234108520-234108670	GM12868	blood:	n/a	n/a
26	CTCF	chr2:234108480-234108630	BJ	skin:	n/a	n/a
27	POLR2A	chr2:234108454-234109142	GM12878	blood:	n/a	n/a
28	RAD21	chr2:234108463-234108790	GM12878	blood:	n/a	n/a
29	BHLHE40	chr2:234108483-234108842	GM12878	blood:	n/a	n/a
30	CTCF	chr2:234108540-234108690	GM12872	blood:	n/a	n/a
31	RAD21	chr2:234108452-234108836	H1-hESC	embryonic stem cell:	n/a	n/a
32	SPI1	chr2:234108456-234108755	GM12878	blood:	n/a	n/a
33	EBF1	chr2:234108420-234108736	GM12878	blood:	n/a	chr2:234108529-234108540
34	CTCF	chr2:234108540-234108690	HepG2	liver:	n/a	n/a
35	ZNF143	chr2:234108535-234108836	GM12878	blood:	n/a	n/a
36	SMC3	chr2:234108523-234108991	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234107430..234110250-chr2:234115314..234117709,2	MCF-7	breast:

No data

Variant related genes	Relation type
INPP5D	TF binding region

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs35786770	1.00[EUR][1000 genomes]
rs7559281	1.00[CEU][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	nsv527354	chr2:234093805-234118882	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv584698	chr2:234107070-234118583	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234053800-234110800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr2:234053800-234113800	Strong transcription	Primary T cells from cord blood	blood
3	chr2:234053800-234118000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:234054400-234110600	Weak transcription	Small Intestine	intestine
5	chr2:234055200-234113400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:234074200-234111200	Weak transcription	Brain Substantia Nigra	brain
7	chr2:234074600-234122000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:234075200-234111800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:234075200-234117000	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:234075400-234111200	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:234075400-234113800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:234075400-234115200	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr2:234077200-234117200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:234078200-234110000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:234089000-234111200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:234089000-234111400	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:234089200-234111400	Weak transcription	Left Ventricle	heart
18	chr2:234089400-234111000	Strong transcription	Fetal Thymus	thymus
19	chr2:234090200-234113800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:234091400-234111200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:234091800-234111200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:234094000-234111400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:234095200-234110800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:234095200-234111200	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:234095200-234111600	Weak transcription	Brain Anterior Caudate	brain
26	chr2:234095800-234109800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr2:234098200-234109800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:234098600-234108600	Strong transcription	Spleen	Spleen
29	chr2:234098800-234109000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:234099200-234111400	Weak transcription	Right Ventricle	heart
31	chr2:234099600-234109600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:234099800-234109800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:234099800-234116000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:234100200-234110400	Strong transcription	Primary B cells from cord blood	blood
35	chr2:234100400-234121800	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:234100800-234108600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr2:234100800-234108600	Weak transcription	Fetal Stomach	stomach
38	chr2:234100800-234110000	Weak transcription	Esophagus	oesophagus
39	chr2:234101000-234109000	Weak transcription	Liver	Liver
40	chr2:234101000-234116000	Weak transcription	HUVEC	blood vessel
41	chr2:234105200-234108800	Weak transcription	Dnd41	blood
42	chr2:234105800-234109600	Weak transcription	NHEK	skin
43	chr2:234105800-234111000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:234106200-234110800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:234106600-234108800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:234107000-234108600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:234107000-234108800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:234107000-234111000	Weak transcription	Fetal Intestine Small	intestine
49	chr2:234107200-234108600	Weak transcription	Placenta	Placenta
50	chr2:234107200-234108600	Weak transcription	Thymus	Thymus

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