Variant report

Variant	rs12543049
Chromosome Location	chr8:61149444-61149445
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	RCOR1	chr8:61149392-61149703	K562	blood:	n/a	n/a
2	ATF1	chr8:61149366-61149711	K562	blood:	n/a	n/a
3	EP300	chr8:61149391-61149693	K562	blood:	n/a	n/a
4	GATA2	chr8:61149310-61149666	K562	blood:	n/a	n/a
5	TAL1	chr8:61149279-61149752	K562	blood:	n/a	n/a
6	CCNT2	chr8:61149431-61149679	K562	blood:	n/a	n/a
7	GATA1	chr8:61149220-61149904	PBDE	blood:	n/a	chr8:61149868-61149884 chr8:61149865-61149886 chr8:61149868-61149884
8	STAT5A	chr8:61149277-61149626	K562	blood:	n/a	n/a
9	CEBPD	chr8:61149310-61149729	K562	blood:	n/a	n/a
10	MYC	chr8:61149434-61149674	K562	blood:	n/a	n/a
11	EP300	chr8:61149338-61149620	K562	blood:	n/a	n/a
12	CEBPD	chr8:61149330-61149749	K562	blood:	n/a	n/a
13	TEAD4	chr8:61149270-61149732	K562	blood:	n/a	n/a
14	TBL1XR1	chr8:61149382-61149623	K562	blood:	n/a	n/a
15	BHLHE40	chr8:61149395-61149734	K562	blood:	n/a	n/a
16	RCOR1	chr8:61149404-61149761	K562	blood:	n/a	n/a
17	POLR2A	chr8:61149366-61149691	K562	blood:	n/a	n/a
18	TEAD4	chr8:61149290-61149766	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:61148922..61152110-chr8:61192037..61194649,3	K562	blood:
2	chr8:61086260..61087963-chr8:61146884..61150490,3	K562	blood:
3	chr8:61148419..61150148-chr8:61192454..61194020,2	K562	blood:

Variant related genes	Relation type
CA8	TF binding region
ENSG00000178538	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10092625	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs10093017	0.99[EUR][1000 genomes]
rs10100434	0.91[EUR][1000 genomes]
rs10100519	0.91[EUR][1000 genomes]
rs10100615	0.91[EUR][1000 genomes]
rs10103858	0.98[EUR][1000 genomes]
rs10103871	0.98[EUR][1000 genomes]
rs10106102	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs10106235	0.99[EUR][1000 genomes]
rs10108007	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs10957122	0.91[EUR][1000 genomes]
rs11990876	0.91[EUR][1000 genomes]
rs11990909	0.91[EUR][1000 genomes]
rs11991009	0.91[EUR][1000 genomes]
rs11991354	0.91[EUR][1000 genomes]
rs11994656	0.91[EUR][1000 genomes]
rs11995055	0.91[EUR][1000 genomes]
rs11998400	0.91[EUR][1000 genomes]
rs11998464	0.91[EUR][1000 genomes]
rs11998465	0.91[EUR][1000 genomes]
rs12542804	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs12543642	0.91[EUR][1000 genomes]
rs12548662	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs12549574	0.98[EUR][1000 genomes]
rs12550354	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs12677216	0.91[EUR][1000 genomes]
rs12708001	0.91[EUR][1000 genomes]
rs12708002	0.92[EUR][1000 genomes]
rs13251863	0.92[EUR][1000 genomes]
rs13253763	0.91[EUR][1000 genomes]
rs13253838	0.91[EUR][1000 genomes]
rs13259697	0.81[EUR][1000 genomes]
rs13259922	0.98[EUR][1000 genomes]
rs13261565	0.91[EUR][1000 genomes]
rs13262241	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs13265385	0.98[EUR][1000 genomes]
rs13265912	0.98[EUR][1000 genomes]
rs13266842	0.98[EUR][1000 genomes]
rs13268419	0.98[EUR][1000 genomes]
rs13268836	0.99[EUR][1000 genomes]
rs28686938	0.98[EUR][1000 genomes]
rs35437140	0.91[EUR][1000 genomes]
rs55733749	0.92[EUR][1000 genomes]
rs56309258	0.92[EUR][1000 genomes]
rs59743106	0.92[EUR][1000 genomes]
rs61219237	0.92[EUR][1000 genomes]
rs67956711	0.99[EUR][1000 genomes]
rs6997366	0.98[EUR][1000 genomes]
rs7007072	0.91[EUR][1000 genomes]
rs7463084	0.96[EUR][1000 genomes]
rs7463207	0.98[EUR][1000 genomes]
rs7826359	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831332	chr8:60985600-61157730	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv890943	chr8:61134995-61225652	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61117800-61167400	Weak transcription	Fetal Stomach	stomach
2	chr8:61120600-61158200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:61138400-61150400	Weak transcription	A549	lung
4	chr8:61139400-61149600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:61142400-61151000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:61142600-61151000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:61144200-61151600	Enhancers	Fetal Intestine Large	intestine
8	chr8:61145200-61149600	Genic enhancers	K562	blood
9	chr8:61145800-61149600	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr8:61146200-61150000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:61146800-61150000	Weak transcription	HUVEC	blood vessel
12	chr8:61147800-61150000	Weak transcription	Left Ventricle	heart
13	chr8:61148000-61150000	Weak transcription	Fetal Thymus	thymus
14	chr8:61148600-61150600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:61148600-61150600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:61148600-61151000	Enhancers	Fetal Intestine Small	intestine
17	chr8:61148800-61150600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:61149000-61149600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:61149000-61149800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:61149400-61149600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:61149400-61150200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:61149400-61150200	Enhancers	Fetal Heart	heart
23	chr8:61149400-61150200	Enhancers	Gastric	stomach
24	chr8:61149400-61150400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:61149400-61150400	Enhancers	Right Atrium	heart
26	chr8:61149400-61150800	Enhancers	Duodenum Smooth Muscle	Duodenum

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