Variant report

Variant	rs114494845
Chromosome Location	chr5:75839476-75839477
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	chr5:75838483-75840557	PBDE	blood:	n/a	n/a
2	RUNX3	chr5:75838732-75839565	GM12878	blood:	n/a	n/a
3	CTCF	chr5:75839162-75839528	GM12878	blood:	n/a	chr5:75839342-75839360
4	TEAD4	chr5:75838470-75839588	K562	blood:	n/a	n/a
5	UBTF	chr5:75838914-75839480	K562	blood:	n/a	n/a
6	GATA1	chr5:75838187-75839958	K562	blood:	n/a	chr5:75839479-75839486 chr5:75839472-75839493 chr5:75839477-75839489 chr5:75838499-75838509 chr5:75839475-75839491 chr5:75838896-75838913 chr5:75839479-75839486 chr5:75839475-75839491 chr5:75839479-75839486 chr5:75839479-75839488 chr5:75839478-75839488
7	MAX	chr5:75838696-75839553	NB4	blood:	n/a	n/a
8	MAX	chr5:75838845-75839538	K562	blood:	n/a	n/a
9	MAZ	chr5:75838607-75839518	K562	blood:	n/a	n/a
10	ATF1	chr5:75838766-75839534	K562	blood:	n/a	n/a
11	RUNX3	chr5:75838669-75839605	GM12878	blood:	n/a	n/a
12	EP300	chr5:75838659-75839600	K562	blood:	n/a	n/a
13	MTA3	chr5:75838802-75839518	GM12878	blood:	n/a	n/a
14	BHLHE40	chr5:75839322-75839547	K562	blood:	n/a	n/a
15	GATA1	chr5:75838375-75839559	PBDE	blood:	n/a	chr5:75839479-75839486 chr5:75839472-75839493 chr5:75839477-75839489 chr5:75838499-75838509 chr5:75839475-75839491 chr5:75838896-75838913 chr5:75839479-75839486 chr5:75839475-75839491 chr5:75839479-75839486 chr5:75839479-75839488 chr5:75839478-75839488
16	MYC	chr5:75838759-75839542	K562	blood:	n/a	n/a
17	MAX	chr5:75839140-75839573	K562	blood:	n/a	n/a
18	SMC3	chr5:75839257-75839523	GM12878	blood:	n/a	n/a
19	USF2	chr5:75839453-75839699	GM12878	blood:	n/a	n/a
20	RCOR1	chr5:75838076-75839656	K562	blood:	n/a	n/a
21	JUND	chr5:75838714-75839487	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75633462..75634419-chr5:75839412..75840924,7	MCF-7	breast:

Variant related genes	Relation type
IQGAP2	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv1022032	chr5:75785106-75914003	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv598679	chr5:75823965-75914729	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1023953	chr5:75831037-75913784	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026257	chr5:75831037-75914003	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1016823	chr5:75831037-75915905	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active 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	33 gene(s)	inside rSNPs	diseases
7	nsv598680	chr5:75839165-75914729	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75826800-75840000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr5:75830000-75841600	Enhancers	Stomach Mucosa	stomach
3	chr5:75832200-75840000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:75833600-75839800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:75835600-75839800	Weak transcription	Spleen	Spleen
6	chr5:75835600-75871200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:75836600-75839600	Weak transcription	HepG2	liver
8	chr5:75837400-75840600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:75837400-75842800	Enhancers	Liver	Liver
10	chr5:75837800-75840600	Enhancers	Fetal Lung	lung
11	chr5:75837800-75841200	Enhancers	Placenta	Placenta
12	chr5:75838000-75840400	Enhancers	Fetal Thymus	thymus
13	chr5:75838000-75840600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:75838200-75840200	Enhancers	Small Intestine	intestine
15	chr5:75838200-75840600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr5:75838200-75841400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr5:75838400-75840200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr5:75838400-75840200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:75838400-75840600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr5:75838400-75840600	Enhancers	Fetal Kidney	kidney
21	chr5:75838600-75839600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr5:75838600-75839600	Enhancers	Fetal Stomach	stomach
23	chr5:75838600-75840000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr5:75838600-75840200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr5:75838600-75840400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr5:75838600-75840400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:75838600-75840600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr5:75838800-75839600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:75838800-75839600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:75838800-75839600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr5:75838800-75839800	Flanking Active TSS	GM12878-XiMat	blood
32	chr5:75838800-75840200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr5:75838800-75840200	Enhancers	Gastric	stomach
34	chr5:75839000-75839600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr5:75839000-75840000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:75839000-75840200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:75839000-75840400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr5:75839000-75840400	Enhancers	Lung	lung
39	chr5:75839000-75840600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr5:75839000-75840600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:75839000-75841600	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr5:75839200-75839600	Enhancers	Primary hematopoietic stem cells	blood
43	chr5:75839200-75840000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:75839200-75840000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:75839200-75840200	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr5:75839200-75840600	Enhancers	Pancreas	Pancrea
47	chr5:75839200-75840800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr5:75839200-75841400	Enhancers	Fetal Intestine Small	intestine
49	chr5:75839400-75839600	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr5:75839400-75839800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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