Variant report

Variant	rs7580510
Chromosome Location	chr2:32502673-32502674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POU2F2	chr2:32502662-32503320	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:32502015-32503541	MCF10A-Er-Src	breast:	n/a	n/a
3	ELF1	chr2:32502627-32503115	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:32502428-32503461	K562	blood:	n/a	n/a
5	REST	chr2:32502565-32503192	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr2:32502580-32503603	H1-neurons	neurons:	n/a	n/a
7	FOXA1	chr2:32502576-32503163	HepG2	liver:	n/a	n/a
8	SIN3AK20	chr2:32502615-32503293	A549	lung:	n/a	n/a
9	MAX	chr2:32502655-32503450	MCF-7	breast:	n/a	n/a
10	BHLHE40	chr2:32502523-32503480	K562	blood:	n/a	chr2:32503155-32503171
11	POLR2A	chr2:32502639-32503641	IMR90	lung:	n/a	n/a
12	POLR2A	chr2:32502619-32503715	GM12892	blood:	n/a	n/a
13	RUNX3	chr2:32502637-32503656	GM12878	blood:	n/a	n/a
14	STAT5A	chr2:32502390-32503264	K562	blood:	n/a	chr2:32502840-32502854
15	SP1	chr2:32502555-32503351	A549	lung:	n/a	chr2:32502926-32502947
16	REST	chr2:32502646-32503549	HepG2	liver:	n/a	n/a
17	POLR2A	chr2:32502657-32503290	HUVEC	blood vessel:	n/a	n/a
18	FOXA1	chr2:32502523-32503328	HepG2	liver:	n/a	n/a
19	POLR2A	chr2:32502444-32503612	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr2:32502552-32503169	HepG2	liver:	n/a	n/a
21	POLR2A	chr2:32502569-32503604	Hela-S3	cervix:	n/a	n/a
22	MAX	chr2:32502059-32503694	HepG2	liver:	n/a	n/a
23	SP1	chr2:32502493-32503402	A549	lung:	n/a	chr2:32502926-32502947
24	TAF1	chr2:32502655-32503555	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAZ	chr2:32502578-32503782	K562	blood:	n/a	n/a
26	ELF1	chr2:32502591-32503523	K562	blood:	n/a	chr2:32503150-32503159
27	TCF12	chr2:32502417-32503520	A549	lung:	n/a	n/a
28	CHD1	chr2:32502463-32503254	GM12878	blood:	n/a	n/a
29	PML	chr2:32502521-32503290	K562	blood:	n/a	chr2:32502548-32502556
30	FOS	chr2:32502615-32503140	K562	blood:	n/a	chr2:32502929-32502938
31	ELF1	chr2:32502486-32503490	HCT-116	colon:	n/a	chr2:32503150-32503159
32	POLR2A	chr2:32502631-32503629	GM12892	blood:	n/a	n/a
33	SP1	chr2:32502667-32503194	H1-hESC	embryonic stem cell:	n/a	chr2:32502926-32502947
34	POLR2A	chr2:32502598-32503183	SK-N-SH	brain:	n/a	n/a
35	MAX	chr2:32502618-32503253	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr2:32502652-32503618	GM12891	blood:	n/a	n/a
37	ATF2	chr2:32502648-32503801	GM12878	blood:	n/a	n/a
38	SP1	chr2:32502671-32503172	H1-hESC	embryonic stem cell:	n/a	chr2:32502926-32502947
39	HEY1	chr2:32502616-32503652	HepG2	liver:	n/a	chr2:32503152-32503167
40	GABPA	chr2:32502505-32503021	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr2:32502471-32503365	U87	brain:	n/a	n/a
42	POLR2A	chr2:32502078-32503495	HepG2	liver:	n/a	n/a
43	POLR2A	chr2:32502552-32503536	GM19099	blood:	n/a	n/a
44	ELK1	chr2:32502589-32503093	K562	blood:	n/a	n/a
45	ZC3H11A	chr2:32502670-32503221	K562	blood:	n/a	n/a
46	SIN3AK20	chr2:32502615-32503107	HepG2	liver:	n/a	n/a
47	ELF1	chr2:32502530-32503276	HepG2	liver:	n/a	chr2:32503150-32503159
48	SIN3AK20	chr2:32502575-32503505	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr2:32502668-32503624	GM12891	blood:	n/a	n/a
50	NFYB	chr2:32502526-32503498	GM12878	blood:	n/a	chr2:32502925-32502940 chr2:32502898-32502913 chr2:32502925-32502939 chr2:32502925-32502940

No.	Distal block	Cell Line	Cell type
1	chr2:32389277..32392458-chr2:32500839..32506003,6	K562	blood:
2	chr2:32490466..32494039-chr2:32501355..32504337,3	K562	blood:
3	chr2:32497835..32500252-chr2:32500878..32502905,2	K562	blood:
4	chr2:32490282..32492408-chr2:32501487..32503465,3	MCF-7	breast:

Variant related genes	Relation type
YIPF4	TF binding region
ENSG00000091106	Chromatin interaction
ENSG00000272716	Chromatin interaction
ENSG00000152683	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11124280	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv1002120	chr2:32470452-32539443	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1004279	chr2:32470452-32543369	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32502000-32502800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr2:32502000-32504000	Active TSS	Psoas Muscle	Psoas
3	chr2:32502200-32502800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr2:32502200-32502800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:32502200-32502800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr2:32502200-32502800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
7	chr2:32502200-32502800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr2:32502200-32502800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:32502200-32502800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:32502200-32502800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:32502200-32502800	Flanking Active TSS	Colon Smooth Muscle	Colon
12	chr2:32502200-32502800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr2:32502200-32502800	Flanking Active TSS	Fetal Lung	lung
14	chr2:32502200-32502800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr2:32502200-32502800	Flanking Active TSS	Dnd41	blood
16	chr2:32502200-32502800	Flanking Active TSS	Hela-S3	cervix
17	chr2:32502200-32502800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr2:32502200-32504000	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr2:32502200-32504200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:32502200-32504200	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr2:32502200-32504400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr2:32502200-32504400	Active TSS	Stomach Smooth Muscle	stomach
23	chr2:32502400-32502800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:32502400-32502800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:32502400-32502800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr2:32502400-32502800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:32502400-32502800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:32502400-32502800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr2:32502400-32502800	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr2:32502400-32502800	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr2:32502400-32502800	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr2:32502400-32502800	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr2:32502400-32502800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr2:32502400-32502800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr2:32502400-32502800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr2:32502400-32502800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:32502400-32502800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr2:32502400-32502800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr2:32502400-32502800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr2:32502400-32502800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr2:32502400-32502800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:32502400-32502800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:32502400-32502800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:32502400-32502800	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr2:32502400-32502800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr2:32502400-32502800	Flanking Active TSS	Fetal Heart	heart
47	chr2:32502400-32502800	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr2:32502400-32502800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr2:32502400-32502800	Flanking Active TSS	Thymus	Thymus
50	chr2:32502400-32502800	Flanking Active TSS	HMEC	breast

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