Variant report

Variant	rs58214362
Chromosome Location	chr2:10829347-10829348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr2:10829291-10830344	HepG2	liver:	n/a	n/a
2	MAX	chr2:10829253-10830313	K562	blood:	n/a	n/a
3	POLR2A	chr2:10829271-10830756	GM12891	blood:	n/a	n/a
4	MXI1	chr2:10829285-10830292	K562	blood:	n/a	n/a
5	RCOR1	chr2:10829261-10829722	K562	blood:	n/a	n/a
6	EP300	chr2:10829183-10829375	GM12878	blood:	n/a	chr2:10829265-10829272
7	POLR2A	chr2:10829087-10830782	HepG2	liver:	n/a	n/a
8	MTA3	chr2:10829280-10830687	GM12878	blood:	n/a	n/a
9	SIN3A	chr2:10829213-10830659	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr2:10829282-10831867	MCF10A-Er-Src	breast:	n/a	n/a
11	MAX	chr2:10829327-10830446	HepG2	liver:	n/a	n/a
12	MAX	chr2:10829329-10830418	HepG2	liver:	n/a	n/a
13	SIN3AK20	chr2:10829317-10830313	K562	blood:	n/a	n/a
14	POLR2A	chr2:10828949-10829574	GM12878	blood:	n/a	n/a
15	MXI1	chr2:10828475-10830867	SK-N-SH	brain:	n/a	n/a
16	BCL3	chr2:10829102-10830373	A549	lung:	n/a	n/a
17	MYC	chr2:10829254-10829749	MCF10A-Er-Src	breast:	n/a	n/a
18	SIN3AK20	chr2:10829290-10830798	SK-N-SH	brain:	n/a	n/a
19	GABPA	chr2:10829173-10830603	MCF-7	breast:	n/a	n/a
20	TEAD4	chr2:10829276-10830340	HepG2	liver:	n/a	n/a
21	MBD4	chr2:10829298-10830368	HepG2	liver:	n/a	n/a
22	SIN3AK20	chr2:10829276-10830422	MCF-7	breast:	n/a	n/a
23	SIN3AK20	chr2:10829216-10829754	A549	lung:	n/a	n/a
24	MAX	chr2:10829279-10830879	HCT-116	colon:	n/a	n/a
25	MAX	chr2:10829335-10830872	HCT-116	colon:	n/a	n/a
26	WRNIP1	chr2:10829152-10830261	GM12878	blood:	n/a	n/a
27	POLR2A	chr2:10829261-10830435	PBDE	blood:	n/a	n/a
28	JUN	chr2:10828996-10830489	K562	blood:	n/a	n/a
29	MXI1	chr2:10828882-10830424	IMR90	lung:	n/a	n/a
30	MAX	chr2:10829307-10830421	ECC-1	luminal epithelium:	n/a	n/a
31	CREB1	chr2:10829256-10830427	HepG2	liver:	n/a	n/a
32	MAX	chr2:10829341-10830350	NB4	blood:	n/a	n/a
33	POLR2A	chr2:10828861-10830744	MCF10A-Er-Src	breast:	n/a	n/a
34	MAX	chr2:10829329-10830864	A549	lung:	n/a	n/a
35	POLR2A	chr2:10829048-10831122	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10804991..10808517-chr2:10827670..10830075,3	K562	blood:
2	chr2:10828248..10829978-chr2:10860553..10862190,2	MCF-7	breast:
3	chr2:10828658..10831241-chr2:10859513..10862984,4	MCF-7	breast:
4	chr2:10584788..10589777-chr2:10826863..10830293,6	K562	blood:
5	chr2:10828291..10832221-chr2:11269738..11273006,3	MCF-7	breast:
6	chr2:10829183..10831676-chr2:10953297..10956112,2	MCF-7	breast:

No data

Variant related genes	Relation type
RN7SL832P	TF binding region
ENSG00000143882	Chromatin interaction
ENSG00000238962	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000257135	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000145063	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs2171771	1.00[AMR][1000 genomes]
rs56702784	1.00[AMR][1000 genomes]
rs56914795	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57125237	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57309175	1.00[AMR][1000 genomes]
rs57382387	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57464659	1.00[AMR][1000 genomes]
rs57597544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58838965	1.00[AMR][1000 genomes]
rs58886768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59114654	1.00[AMR][1000 genomes]
rs59640725	1.00[AMR][1000 genomes]
rs60016454	1.00[AMR][1000 genomes]
rs60286502	1.00[AMR][1000 genomes]
rs60384217	1.00[AMR][1000 genomes]
rs60489255	1.00[AMR][1000 genomes]
rs61167760	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6749287	1.00[AMR][1000 genomes]
rs73165980	1.00[AMR][1000 genomes]
rs73167824	1.00[AMR][1000 genomes]
rs73167845	1.00[AMR][1000 genomes]
rs73167849	1.00[AMR][1000 genomes]
rs73167864	1.00[AMR][1000 genomes]
rs73167887	1.00[AMR][1000 genomes]
rs73167897	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73167901	1.00[AMR][1000 genomes]
rs73169906	1.00[AMR][1000 genomes]
rs73169907	1.00[AMR][1000 genomes]
rs73169908	1.00[AMR][1000 genomes]
rs73169917	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73169921	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73169922	1.00[AMR][1000 genomes]
rs73169924	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73169925	1.00[AMR][1000 genomes]
rs73169929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73169933	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7587281	1.00[AMR][1000 genomes]
rs7607468	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr2:10817800-10829400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:10826400-10829400	Enhancers	Spleen	Spleen
3	chr2:10827400-10829400	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr2:10828000-10829400	Flanking Active TSS	Dnd41	blood
5	chr2:10828200-10829400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:10828200-10829400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:10828200-10829400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:10828200-10829400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:10828200-10829400	Enhancers	Stomach Mucosa	stomach
10	chr2:10828200-10829400	Flanking Active TSS	Hela-S3	cervix
11	chr2:10828200-10829600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:10828200-10829800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:10828200-10829800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:10828200-10829800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr2:10828200-10831200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr2:10828400-10829400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr2:10828400-10829400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr2:10828400-10829400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:10828400-10829400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:10828400-10829400	Flanking Active TSS	HMEC	breast
21	chr2:10828400-10829400	Flanking Active TSS	HSMM	muscle
22	chr2:10828400-10829400	Flanking Active TSS	NHEK	skin
23	chr2:10828600-10829400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:10828600-10829400	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr2:10828600-10829600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr2:10828600-10829800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr2:10828600-10829800	Flanking Active TSS	Osteobl	bone
28	chr2:10828600-10830000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr2:10828600-10830600	Active TSS	Pancreas	Pancrea
30	chr2:10828600-10830800	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr2:10828800-10829400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr2:10828800-10829400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr2:10828800-10829400	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr2:10828800-10829400	Flanking Active TSS	Right Ventricle	heart
35	chr2:10828800-10829400	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr2:10828800-10829400	Flanking Active TSS	HSMMtube	muscle
37	chr2:10828800-10829400	Flanking Active TSS	NH-A	brain
38	chr2:10828800-10829400	Flanking Active TSS	NHDF-Ad	bronchial
39	chr2:10828800-10829600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr2:10828800-10829600	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr2:10828800-10829600	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr2:10828800-10829600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr2:10828800-10829600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr2:10828800-10829600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr2:10828800-10829600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr2:10828800-10829600	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr2:10828800-10829600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr2:10828800-10829600	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr2:10828800-10829600	Flanking Active TSS	Thymus	Thymus
50	chr2:10828800-10829600	Flanking Active TSS	HUVEC	blood vessel

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