Variant report

Variant	rs7296384
Chromosome Location	chr12:104322866-104322867
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	GABPA	chr12:104322837-104324464	SK-N-SH	brain:	n/a	chr12:104323616-104323625 chr12:104324137-104324146
2	ZNF143	chr12:104322493-104324458	GM12878	blood:	n/a	chr12:104324141-104324159 chr12:104323579-104323597 chr12:104323586-104323595 chr12:104323536-104323554 chr12:104324136-104324146 chr12:104323540-104323559 chr12:104324429-104324447
3	EBF1	chr12:104322093-104325000	GM12878	blood:	n/a	n/a
4	RUNX3	chr12:104321971-104325533	GM12878	blood:	n/a	n/a
5	BCL3	chr12:104322865-104324368	A549	lung:	n/a	chr12:104323616-104323629 chr12:104323586-104323594 chr12:104323615-104323624 chr12:104323613-104323626
6	MTA3	chr12:104322308-104323916	GM12878	blood:	n/a	n/a
7	MEF2A	chr12:104322248-104323544	GM12878	blood:	n/a	n/a
8	BCLAF1	chr12:104322139-104323932	GM12878	blood:	n/a	chr12:104323616-104323629 chr12:104323586-104323594 chr12:104323615-104323624 chr12:104323613-104323626
9	POLR2A	chr12:104322428-104325591	SK-N-MC	brain:	n/a	n/a
10	WRNIP1	chr12:104322092-104325599	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:104322636-104323705	GM12878	blood:	n/a	n/a
12	NFIC	chr12:104322006-104324995	GM12878	blood:	n/a	n/a
13	YY1	chr12:104322704-104323310	GM12878	blood:	n/a	chr12:104323287-104323301
14	POLR2A	chr12:104322498-104325320	GM12878	blood:	n/a	n/a
15	FOXM1	chr12:104322048-104323502	GM12878	blood:	n/a	n/a
16	MYC	chr12:104322591-104324497	K562	blood:	n/a	chr12:104324136-104324146 chr12:104324419-104324429 chr12:104323780-104323789 chr12:104323784-104323793 chr12:104323936-104323951 chr12:104324369-104324379
17	MAX	chr12:104322072-104325169	GM12878	blood:	n/a	chr12:104324136-104324146 chr12:104322562-104322569 chr12:104324993-104325000 chr12:104324419-104324429 chr12:104323780-104323789 chr12:104324642-104324652 chr12:104323784-104323793 chr12:104323936-104323951 chr12:104322561-104322572 chr12:104324369-104324379
18	TAF1	chr12:104322790-104323593	GM12891	blood:	n/a	n/a
19	RELA	chr12:104321990-104325291	GM19193	blood:	n/a	n/a
20	POU2F2	chr12:104322391-104323600	GM12878	blood:	n/a	n/a
21	POLR2A	chr12:104322422-104323610	GM12892	blood:	n/a	n/a
22	MAX	chr12:104322651-104325593	A549	lung:	n/a	chr12:104324136-104324146 chr12:104324993-104325000 chr12:104324419-104324429 chr12:104323780-104323789 chr12:104324642-104324652 chr12:104323784-104323793 chr12:104323936-104323951 chr12:104324369-104324379
23	CREB1	chr12:104322814-104325148	HepG2	liver:	n/a	n/a
24	E2F6	chr12:104322797-104325182	K562	blood:	n/a	chr12:104324137-104324146 chr12:104324434-104324444 chr12:104323616-104323625 chr12:104323708-104323719
25	MYC	chr12:104322649-104323503	H1-hESC	embryonic stem cell:	n/a	n/a
26	TEAD4	chr12:104322407-104327510	K562	blood:	n/a	n/a
27	POLR2A	chr12:104322412-104323589	GM12891	blood:	n/a	n/a
28	TAF1	chr12:104322787-104323569	GM12878	blood:	n/a	n/a
29	POLR2A	chr12:104322418-104323748	HL-60	blood:	n/a	n/a
30	ELF1	chr12:104322512-104322888	K562	blood:	n/a	chr12:104322712-104322725
31	POLR2A	chr12:104322752-104324514	H1-neurons	neurons:	n/a	n/a
32	TCF3	chr12:104322467-104323279	GM12878	blood:	n/a	chr12:104322957-104322973
33	MYC	chr12:104322667-104325237	K562	blood:	n/a	chr12:104324136-104324146 chr12:104324993-104325000 chr12:104324419-104324429 chr12:104323780-104323789 chr12:104324642-104324652 chr12:104323784-104323793 chr12:104323936-104323951 chr12:104324369-104324379
34	SP1	chr12:104322381-104324528	GM12878	blood:	n/a	chr12:104323616-104323625 chr12:104323614-104323626 chr12:104323927-104323934 chr12:104323990-104324011 chr12:104323289-104323301 chr12:104324233-104324247 chr12:104323615-104323625 chr12:104323614-104323626 chr12:104323615-104323629 chr12:104323615-104323624
35	MYC	chr12:104322219-104325211	NB4	blood:	n/a	chr12:104324136-104324146 chr12:104322562-104322569 chr12:104324993-104325000 chr12:104324419-104324429 chr12:104323780-104323789 chr12:104324642-104324652 chr12:104323784-104323793 chr12:104323936-104323951 chr12:104322561-104322572 chr12:104324369-104324379
36	MTA3	chr12:104321890-104325504	GM12878	blood:	n/a	n/a
37	RELA	chr12:104322051-104324458	GM12892	blood:	n/a	n/a
38	RFX5	chr12:104322611-104325806	SK-N-SH	brain:	n/a	chr12:104323780-104323789 chr12:104323777-104323791 chr12:104323779-104323794 chr12:104323779-104323794 chr12:104323779-104323794 chr12:104323778-104323795
39	TAF1	chr12:104322855-104323585	GM12891	blood:	n/a	n/a
40	SIN3A	chr12:104322361-104325276	GM12878	blood:	n/a	chr12:104324624-104324633 chr12:104323584-104323593 chr12:104324039-104324047
41	MAX	chr12:104322765-104325318	A549	lung:	n/a	chr12:104324136-104324146 chr12:104324993-104325000 chr12:104324419-104324429 chr12:104323780-104323789 chr12:104324642-104324652 chr12:104323784-104323793 chr12:104323936-104323951 chr12:104324369-104324379
42	POLR2A	chr12:104322612-104323637	K562	blood:	n/a	n/a
43	POLR2A	chr12:104322849-104325508	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr12:104322667-104323614	GM12878	blood:	n/a	n/a
45	MYC	chr12:104322401-104325286	K562	blood:	n/a	chr12:104324136-104324146 chr12:104322562-104322569 chr12:104324993-104325000 chr12:104324419-104324429 chr12:104323780-104323789 chr12:104324642-104324652 chr12:104323784-104323793 chr12:104323936-104323951 chr12:104322561-104322572 chr12:104324369-104324379
46	POLR2A	chr12:104322751-104325093	GM10847	blood:	n/a	n/a
47	POLR2A	chr12:104322393-104323572	GM12891	blood:	n/a	n/a
48	SPI1	chr12:104322400-104322876	GM12891	blood:	n/a	chr12:104322602-104322615
49	HEY1	chr12:104322636-104323578	HepG2	liver:	n/a	n/a
50	POLR2A	chr12:104322651-104323606	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:62608620..62609147-chr12:104322726..104323477,2	NB4	blood:
2	chr12:104298858..104303101-chr12:104321689..104325332,4	K562	blood:
3	chr12:104320418..104331406-chr12:104346801..104355501,25	MCF-7	breast:
4	chr12:104233909..104239694-chr12:104322835..104327398,8	K562	blood:
5	chr12:104314809..104316668-chr12:104321304..104323532,2	MCF-7	breast:
6	chr12:104233715..104236918-chr12:104321893..104325386,6	K562	blood:
7	chr12:104319225..104328292-chr12:104356282..104362179,14	K562	blood:
8	chr12:104322684..104325586-chr12:104530441..104532019,2	K562	blood:
9	chr12:104276117..104279238-chr12:104322705..104326968,4	K562	blood:
10	chr12:104309007..104311155-chr12:104321580..104324192,3	K562	blood:
11	chr12:104313655..104316610-chr12:104321073..104323844,5	MCF-7	breast:
12	chr12:104317968..104319875-chr12:104322035..104323737,2	MCF-7	breast:
13	chr12:104300678..104303599-chr12:104319392..104323559,4	K562	blood:
14	chr12:104294934..104297771-chr12:104321554..104323667,2	MCF-7	breast:

Variant related genes	Relation type
MIR3652	TF binding region
HSP90B1	TF binding region
ENSG00000111696	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000257327	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000139372	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4135097	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 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	chr12:104319400-104323000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:104322000-104323000	Flanking Active TSS	Dnd41	blood
3	chr12:104322000-104323200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:104322000-104323400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr12:104322000-104323600	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr12:104322000-104323600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:104322000-104323600	Flanking Active TSS	Fetal Thymus	thymus
8	chr12:104322000-104325000	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr12:104322000-104325200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr12:104322000-104325200	Active TSS	Rectal Smooth Muscle	rectum
11	chr12:104322200-104323000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr12:104322200-104323000	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr12:104322200-104323000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:104322200-104323000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr12:104322200-104323000	Flanking Active TSS	Fetal Lung	lung
16	chr12:104322200-104323200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr12:104322200-104323200	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr12:104322200-104323200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr12:104322200-104323400	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr12:104322200-104323400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr12:104322200-104323400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:104322200-104323400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr12:104322200-104324800	Active TSS	Thymus	Thymus
24	chr12:104322200-104325200	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr12:104322200-104325200	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr12:104322200-104326200	Active TSS	H1 Cell Line	embryonic stem cell
27	chr12:104322200-104326200	Active TSS	GM12878-XiMat	blood
28	chr12:104322400-104323000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:104322400-104323000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:104322400-104323000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:104322400-104323000	Flanking Active TSS	Liver	Liver
32	chr12:104322400-104323000	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr12:104322400-104323000	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr12:104322400-104323000	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr12:104322400-104323000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr12:104322400-104323000	Flanking Active TSS	Fetal Heart	heart
37	chr12:104322400-104323000	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr12:104322400-104323000	Flanking Active TSS	A549	lung
39	chr12:104322400-104323000	Flanking Active TSS	Osteobl	bone
40	chr12:104322400-104323200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:104322400-104323200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:104322400-104323200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:104322400-104323200	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr12:104322400-104323200	Flanking Active TSS	HUVEC	blood vessel
45	chr12:104322400-104323200	Flanking Active TSS	K562	blood
46	chr12:104322400-104323400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr12:104322400-104323400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:104322400-104323600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr12:104322400-104325200	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr12:104322400-104325200	Active TSS	Brain Inferior Temporal Lobe	brain

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