Variant report

Variant	rs3176783
Chromosome Location	chr12:9914031-9914032
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	POLR2A	chr12:9913249-9914076	K562	blood:	n/a	n/a
2	TBL1XR1	chr12:9907568-9914475	K562	blood:	n/a	n/a
3	RELA	chr12:9913236-9914086	GM18951	blood:	n/a	n/a
4	EP300	chr12:9913287-9914275	GM12878	blood:	n/a	chr12:9914048-9914055
5	MYC	chr12:9913356-9914103	NB4	blood:	n/a	chr12:9913547-9913557
6	TBL1XR1	chr12:9912332-9914130	GM12878	blood:	n/a	n/a
7	EP300	chr12:9912888-9914177	GM12878	blood:	n/a	chr12:9914048-9914055
8	RELA	chr12:9913287-9914177	GM12891	blood:	n/a	n/a
9	RELA	chr12:9913261-9914359	GM12892	blood:	n/a	n/a
10	MAX	chr12:9913344-9914206	NB4	blood:	n/a	chr12:9913547-9913557
11	POLR2A	chr12:9913204-9914077	NB4	blood:	n/a	n/a
12	POLR2A	chr12:9913903-9914585	H1-neurons	neurons:	n/a	n/a
13	RELA	chr12:9913301-9914374	GM19099	blood:	n/a	n/a
14	NFIC	chr12:9912991-9914181	GM12878	blood:	n/a	n/a
15	CREB1	chr12:9913198-9914455	GM12878	blood:	n/a	n/a
16	ATF1	chr12:9913288-9914287	K562	blood:	n/a	n/a
17	RUNX3	chr12:9913211-9914459	GM12878	blood:	n/a	n/a
18	MXI1	chr12:9911774-9914342	GM12878	blood:	n/a	n/a
19	ARID3A	chr12:9913088-9914031	K562	blood:	n/a	n/a
20	RELA	chr12:9913026-9914458	GM12878	blood:	n/a	n/a
21	RELA	chr12:9913261-9914177	GM19193	blood:	n/a	n/a
22	JUND	chr12:9913309-9914197	K562	blood:	n/a	n/a
23	MAZ	chr12:9913000-9914278	GM12878	blood:	n/a	chr12:9913547-9913557
24	RELA	chr12:9913230-9914405	GM18505	blood:	n/a	n/a
25	TBP	chr12:9912830-9914599	GM12878	blood:	n/a	n/a
26	CEBPB	chr12:9913268-9914293	GM12878	blood:	n/a	n/a
27	RELA	chr12:9913302-9914343	GM10847	blood:	n/a	n/a
28	POLR2A	chr12:9913245-9914137	K562	blood:	n/a	n/a
29	BHLHE40	chr12:9912823-9914250	GM12878	blood:	n/a	n/a
30	IKZF1	chr12:9913378-9914146	GM12878	blood:	n/a	n/a
31	STAT3	chr12:9913276-9914256	GM12878	blood:	n/a	chr12:9913858-9913867 chr12:9913855-9913869 chr12:9913857-9913866 chr12:9913733-9913741 chr12:9914109-9914120
32	CHD1	chr12:9911784-9914423	GM12878	blood:	n/a	n/a
33	REST	chr12:9914014-9914575	H1-neurons	neurons:	n/a	chr12:9914249-9914257
34	RELA	chr12:9913267-9914319	GM15510	blood:	n/a	n/a
35	CUX1	chr12:9913104-9914292	K562	blood:	n/a	n/a
36	RUNX3	chr12:9913304-9914244	GM12878	blood:	n/a	n/a
37	EP300	chr12:9912911-9914381	K562	blood:	n/a	chr12:9914048-9914055
38	POLR2A	chr12:9902616-9914625	PBDE	blood:	n/a	n/a
39	RELA	chr12:9913254-9914259	GM18526	blood:	n/a	n/a
40	CHD2	chr12:9913214-9914395	GM12878	blood:	n/a	n/a
41	CUX1	chr12:9912884-9914305	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:9914001-9914541	H1-neurons	neurons:	n/a	n/a
43	ATF2	chr12:9913158-9914168	GM12878	blood:	n/a	n/a
44	EP300	chr12:9913269-9914473	GM12878	blood:	n/a	chr12:9914048-9914055
45	POLR2A	chr12:9912756-9914035	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9913275..9915086-chr12:10364378..10366451,2	K562	blood:
2	chr12:9913257..9914775-chr12:10363988..10366451,2	K562	blood:

Variant related genes	Relation type
CD69	TF binding region
ENSG00000139112	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11829217	1.00[AFR][1000 genomes]
rs11829361	0.91[AFR][1000 genomes]
rs11830098	0.92[AFR][1000 genomes]
rs11832194	0.92[AFR][1000 genomes]
rs11833226	1.00[AFR][1000 genomes]
rs11834929	1.00[AFR][1000 genomes]
rs3176785	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]

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	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9903400-9917600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:9909000-9914800	Active TSS	Thymus	Thymus
3	chr12:9909600-9914200	Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr12:9909800-9914400	Active TSS	Primary T cells fromperipheralblood	blood
5	chr12:9910200-9914200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr12:9910400-9914400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:9910400-9914400	Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr12:9910600-9914400	Active TSS	Primary T cells from cord blood	blood
9	chr12:9910600-9914400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:9912000-9914200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr12:9912800-9914200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:9912800-9915000	Flanking Active TSS	Dnd41	blood
13	chr12:9913000-9916000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:9913200-9914600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr12:9913400-9914200	Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr12:9913400-9914400	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr12:9913400-9914600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:9913400-9914800	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr12:9913600-9914200	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr12:9913600-9914200	Enhancers	Fetal Kidney	kidney
21	chr12:9913600-9914400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr12:9913600-9914400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:9913600-9914800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr12:9913600-9914800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:9913800-9914200	Enhancers	HUVEC	blood vessel
26	chr12:9913800-9917600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:9914000-9914200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr12:9914000-9914200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr12:9914000-9914200	Active TSS	Fetal Thymus	thymus
30	chr12:9914000-9914200	Active TSS	GM12878-XiMat	blood
31	chr12:9914000-9914400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:9914000-9914400	Flanking Active TSS	K562	blood
33	chr12:9914000-9914600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr12:9914000-9915200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:9914000-9916800	Weak transcription	Duodenum Mucosa	Duodenum

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