Variant report

Variant	rs2233436
Chromosome Location	chr6:44230240-44230241
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	BCLAF1	chr6:44229967-44232867	GM12878	blood:	n/a	chr6:44232448-44232457 chr6:44231117-44231126 chr6:44230517-44230526 chr6:44231116-44231125
2	ZNF143	chr6:44230193-44231629	GM12878	blood:	n/a	chr6:44230227-44230246 chr6:44231088-44231106
3	POLR2A	chr6:44213452-44233528	GM12892	blood:	n/a	n/a
4	POLR2A	chr6:44213372-44233644	GM12891	blood:	n/a	n/a
5	STAT5A	chr6:44229584-44233087	GM12878	blood:	n/a	chr6:44231139-44231150 chr6:44230531-44230543 chr6:44231312-44231320 chr6:44231460-44231468 chr6:44229749-44229761
6	POLR2A	chr6:44213416-44233519	GM12878	blood:	n/a	n/a
7	POLR2A	chr6:44229240-44233577	GM18951	blood:	n/a	n/a
8	POLR2A	chr6:44229697-44233440	GM12891	blood:	n/a	n/a
9	POLR2A	chr6:44213785-44233471	GM12878	blood:	n/a	n/a
10	WRNIP1	chr6:44229636-44233069	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:44213479-44233557	GM12892	blood:	n/a	n/a
12	POLR2A	chr6:44229166-44233419	GM12878	blood:	n/a	n/a
13	POLR2A	chr6:44229753-44230431	K562	blood:	n/a	n/a
14	MTA3	chr6:44229970-44232487	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:44229138-44233380	GM12891	blood:	n/a	n/a
16	POLR2A	chr6:44229960-44233576	GM15510	blood:	n/a	n/a
17	POLR2A	chr6:44229243-44233544	GM12878	blood:	n/a	n/a
18	MTA3	chr6:44229597-44234687	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:44229979-44233540	GM12892	blood:	n/a	n/a
20	POLR2A	chr6:44213632-44233614	GM12878	blood:	n/a	n/a
21	RELA	chr6:44229920-44233620	GM10847	blood:	n/a	chr6:44230761-44230770 chr6:44230761-44230770 chr6:44231328-44231337 chr6:44231328-44231337
22	POLR2A	chr6:44229859-44232348	GM12878	blood:	n/a	n/a
23	STAT1	chr6:44230162-44230244	GM12878	blood:	n/a	n/a
24	RELA	chr6:44229698-44233650	GM18951	blood:	n/a	chr6:44230761-44230770 chr6:44230761-44230770 chr6:44231328-44231337 chr6:44231328-44231337
25	POU2F2	chr6:44229947-44231796	GM12878	blood:	n/a	chr6:44231230-44231242 chr6:44230405-44230417
26	RELA	chr6:44229670-44234939	GM12891	blood:	n/a	chr6:44230761-44230770 chr6:44230761-44230770 chr6:44231328-44231337 chr6:44231328-44231337
27	RELA	chr6:44230168-44233635	GM15510	blood:	n/a	chr6:44230761-44230770 chr6:44230761-44230770 chr6:44231328-44231337 chr6:44231328-44231337
28	POLR2A	chr6:44229970-44233631	GM18526	blood:	n/a	n/a
29	PML	chr6:44229609-44233611	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:44216490-44233394	GM12878	blood:	n/a	n/a
31	POLR2A	chr6:44229030-44233502	GM12892	blood:	n/a	n/a
32	NFIC	chr6:44230095-44232640	GM12878	blood:	n/a	n/a
33	POLR2A	chr6:44229840-44233493	GM12891	blood:	n/a	n/a
34	POLR2A	chr6:44229645-44233473	GM12892	blood:	n/a	n/a
35	ESRRA	chr6:44222591-44234485	GM12878	blood:	n/a	chr6:44225492-44225508 chr6:44225493-44225512 chr6:44225493-44225507 chr6:44225491-44225509 chr6:44231630-44231646 chr6:44225492-44225502
36	POLR2A	chr6:44230213-44230270	HepG2	liver:	n/a	n/a
37	POLR2A	chr6:44229870-44232988	GM12891	blood:	n/a	n/a
38	POLR2A	chr6:44227424-44233595	GM18505	blood:	n/a	n/a
39	EBF1	chr6:44229921-44231807	GM12878	blood:	n/a	chr6:44231481-44231491 chr6:44231481-44231490 chr6:44231480-44231491
40	POLR2A	chr6:44227485-44233645	GM19099	blood:	n/a	n/a
41	POLR2A	chr6:44230214-44230240	A549	lung:	n/a	n/a
42	POLR2A	chr6:44229885-44233587	GM12878	blood:	n/a	n/a
43	POLR2A	chr6:44229198-44233560	GM19193	blood:	n/a	n/a
44	RCOR1	chr6:44230035-44232292	GM12878	blood:	n/a	n/a
45	CHD1	chr6:44229939-44233615	GM12878	blood:	n/a	n/a
46	RELA	chr6:44230159-44232354	GM12892	blood:	n/a	chr6:44230761-44230770 chr6:44230761-44230770 chr6:44231328-44231337 chr6:44231328-44231337

No.	Distal block	Cell Line	Cell type
1	chr6:44230152..44232181-chr6:44314660..44317132,2	K562	blood:
2	chr6:44075989..44078567-chr6:44228994..44231184,2	MCF-7	breast:
3	chr6:44229205..44230899-chr6:44280293..44282234,2	MCF-7	breast:
4	chr6:44229152..44231602-chr6:44233591..44236343,2	MCF-7	breast:
5	chr6:44229040..44230612-chr6:44275576..44277404,2	MCF-7	breast:
6	chr6:43595119..43596813-chr6:44228044..44230570,2	K562	blood:
7	chr6:44229471..44232092-chr6:44306709..44308642,2	K562	blood:
8	chr6:43624198..43626185-chr6:44230029..44232355,2	K562	blood:

Variant related genes	Relation type
NFKBIE	TF binding region
SLC35B2	TF binding region
ENSG00000124608	Chromatin interaction
ENSG00000172432	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10484624	1.00[TSI][hapmap]
rs11571889	1.00[TSI][hapmap]
rs11571999	1.00[TSI][hapmap]
rs11572021	1.00[TSI][hapmap]
rs34984888	1.00[ASW][hapmap]
rs9381320	1.00[TSI][hapmap]
rs992160	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
10	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv885855	chr6:44223010-44231479	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
12	nsv885856	chr6:44223010-44232920	Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
13	nsv885857	chr6:44223010-44250165	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44225600-44230800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:44225600-44232600	Weak transcription	Aorta	Aorta
3	chr6:44225800-44230400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:44225800-44230400	Weak transcription	Right Atrium	heart
5	chr6:44225800-44230400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
6	chr6:44225800-44230400	Weak transcription	HMEC	breast
7	chr6:44225800-44230600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:44225800-44230600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:44225800-44230600	Weak transcription	Ovary	ovary
10	chr6:44225800-44230600	Weak transcription	NHDF-Ad	bronchial
11	chr6:44225800-44230800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:44225800-44230800	Weak transcription	Fetal Kidney	kidney
13	chr6:44225800-44230800	Weak transcription	Psoas Muscle	Psoas
14	chr6:44225800-44230800	Weak transcription	HSMM	muscle
15	chr6:44225800-44231000	Genic enhancers	Spleen	Spleen
16	chr6:44225800-44231400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:44226000-44230600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr6:44226000-44230800	Weak transcription	NHLF	lung
19	chr6:44226000-44231200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr6:44226200-44230400	Weak transcription	Fetal Heart	heart
21	chr6:44226200-44230600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:44226400-44230400	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr6:44226400-44230400	Weak transcription	Fetal Brain Male	brain
24	chr6:44228200-44230400	Weak transcription	Brain Germinal Matrix	brain
25	chr6:44228200-44230600	Weak transcription	HSMMtube	muscle
26	chr6:44228200-44230800	Weak transcription	K562	blood
27	chr6:44228200-44231200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:44228400-44230400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:44228400-44230400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:44228400-44230600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:44228400-44231200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:44228600-44230400	Genic enhancers	Placenta	Placenta
33	chr6:44228600-44230800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr6:44228800-44230400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr6:44229000-44230600	Genic enhancers	Primary monocytes fromperipheralblood	blood
36	chr6:44229000-44230600	Weak transcription	Osteobl	bone
37	chr6:44229200-44230400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:44229200-44230600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:44229200-44230600	Enhancers	Brain Cingulate Gyrus	brain
40	chr6:44229200-44230600	Weak transcription	Fetal Brain Female	brain
41	chr6:44229400-44230400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:44229400-44230400	Weak transcription	Primary T cells from cord blood	blood
43	chr6:44229400-44230400	Genic enhancers	Primary T cells fromperipheralblood	blood
44	chr6:44229400-44230400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:44229400-44230600	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
46	chr6:44229400-44230800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
47	chr6:44229400-44231000	Genic enhancers	Fetal Muscle Trunk	muscle
48	chr6:44229400-44232800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:44229600-44230400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:44229600-44230400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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