Variant report

Variant	rs537689105
Chromosome Location	chr6:33398844-33398845
allele	A/G
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	RELA	chr6:33398109-33398898	GM19193	blood:	n/a	chr6:33398299-33398308 chr6:33398299-33398308
2	BHLHE40	chr6:33398813-33398995	K562	blood:	n/a	n/a
3	ELF1	chr6:33398770-33400290	GM12878	blood:	n/a	chr6:33398973-33398985 chr6:33398859-33398872
4	ZNF143	chr6:33398801-33399439	H1-hESC	embryonic stem cell:	n/a	n/a
5	SP1	chr6:33398595-33399136	A549	lung:	n/a	chr6:33398918-33398930 chr6:33398874-33398888 chr6:33398918-33398930 chr6:33398919-33398928 chr6:33398919-33398933 chr6:33398919-33398928 chr6:33398920-33398929 chr6:33398936-33398957
6	SIN3AK20	chr6:33398793-33398960	HepG2	liver:	n/a	n/a
7	SIN3A	chr6:33398695-33399700	H1-hESC	embryonic stem cell:	n/a	chr6:33398933-33398942 chr6:33398970-33398981
8	STAT3	chr6:33398317-33398917	GM12878	blood:	n/a	n/a
9	YY1	chr6:33398682-33399146	SK-N-SH_RA	brain:	n/a	chr6:33398973-33398987 chr6:33398996-33399008
10	WRNIP1	chr6:33398698-33398872	GM12878	blood:	n/a	n/a
11	SP1	chr6:33398651-33399516	H1-hESC	embryonic stem cell:	n/a	chr6:33398918-33398930 chr6:33399260-33399274 chr6:33398874-33398888 chr6:33398918-33398930 chr6:33398919-33398928 chr6:33398919-33398933 chr6:33399323-33399337 chr6:33399261-33399270 chr6:33398919-33398928 chr6:33398920-33398929 chr6:33398936-33398957 chr6:33399161-33399175
12	CCNT2	chr6:33398766-33398945	K562	blood:	n/a	n/a
13	EP300	chr6:33398813-33398877	GM12878	blood:	n/a	n/a
14	USF2	chr6:33398775-33399125	GM12878	blood:	n/a	n/a
15	SIN3AK20	chr6:33398683-33399045	H1-hESC	embryonic stem cell:	n/a	n/a
16	SP1	chr6:33398621-33399599	H1-hESC	embryonic stem cell:	n/a	chr6:33398918-33398930 chr6:33399260-33399274 chr6:33398874-33398888 chr6:33398918-33398930 chr6:33398919-33398928 chr6:33398919-33398933 chr6:33399323-33399337 chr6:33399261-33399270 chr6:33398919-33398928 chr6:33398920-33398929 chr6:33398936-33398957 chr6:33399161-33399175
17	RELA	chr6:33398068-33398938	GM18505	blood:	n/a	chr6:33398299-33398308 chr6:33398299-33398308
18	EP300	chr6:33398774-33398988	SK-N-SH_RA	brain:	n/a	chr6:33398920-33398936
19	CREB1	chr6:33398708-33399510	H1-hESC	embryonic stem cell:	n/a	n/a
20	ELK1	chr6:33398711-33398996	K562	blood:	n/a	n/a
21	HDAC2	chr6:33398746-33399096	K562	blood:	n/a	n/a
22	EP300	chr6:33398781-33399024	SK-N-SH_RA	brain:	n/a	chr6:33398920-33398936
23	YY1	chr6:33398663-33399316	GM12878	blood:	n/a	chr6:33398973-33398987 chr6:33398996-33399008
24	MXI1	chr6:33398550-33399322	GM12878	blood:	n/a	chr6:33398901-33398916
25	JUND	chr6:33398729-33398987	K562	blood:	n/a	chr6:33398938-33398947
26	TBP	chr6:33398826-33399553	H1-hESC	embryonic stem cell:	n/a	n/a
27	RELA	chr6:33398007-33399061	GM18951	blood:	n/a	chr6:33398299-33398308 chr6:33398299-33398308
28	SIN3A	chr6:33398718-33399050	GM12878	blood:	n/a	chr6:33398933-33398942 chr6:33398970-33398981
29	TEAD4	chr6:33398784-33399487	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr6:33398820-33398970	HUVEC	blood vessel:	n/a	n/a
31	ZNF143	chr6:33398822-33399015	GM12878	blood:	n/a	n/a
32	SIN3AK20	chr6:33398771-33399091	PANC-1	pancreas:	n/a	n/a
33	HCFC1	chr6:33398742-33398984	K562	blood:	n/a	n/a
34	RELA	chr6:33398026-33398970	GM10847	blood:	n/a	chr6:33398299-33398308 chr6:33398299-33398308
35	EP300	chr6:33398671-33399482	H1-hESC	embryonic stem cell:	n/a	chr6:33398920-33398936
36	MAX	chr6:33398751-33399689	H1-hESC	embryonic stem cell:	n/a	chr6:33399285-33399295 chr6:33399302-33399309 chr6:33399420-33399430 chr6:33399300-33399311
37	GABPA	chr6:33398730-33399234	K562	blood:	n/a	n/a
38	USF1	chr6:33398826-33399013	SK-N-SH_RA	brain:	n/a	n/a
39	MAX	chr6:33398720-33399447	H1-hESC	embryonic stem cell:	n/a	chr6:33399285-33399295 chr6:33399302-33399309 chr6:33399420-33399430 chr6:33399300-33399311
40	ELK1	chr6:33398681-33399141	GM12878	blood:	n/a	n/a
41	MYC	chr6:33398770-33398950	K562	blood:	n/a	n/a
42	MAZ	chr6:33398693-33399129	K562	blood:	n/a	n/a
43	MXI1	chr6:33398710-33399455	H1-hESC	embryonic stem cell:	n/a	chr6:33398901-33398916 chr6:33399333-33399342
44	SIN3AK20	chr6:33398646-33399531	H1-hESC	embryonic stem cell:	n/a	n/a
45	JUND	chr6:33398830-33399053	H1-hESC	embryonic stem cell:	n/a	chr6:33398938-33398947
46	POLR2A	chr6:33398042-33399915	SK-N-MC	brain:	n/a	n/a
47	IRF1	chr6:33398647-33399046	K562	blood:	n/a	chr6:33398947-33398956 chr6:33398916-33398930
48	TBL1XR1	chr6:33398638-33399007	K562	blood:	n/a	n/a
49	MAX	chr6:33398789-33399659	H1-hESC	embryonic stem cell:	n/a	chr6:33399285-33399295 chr6:33399302-33399309 chr6:33399420-33399430 chr6:33399300-33399311
50	MYC	chr6:33398775-33399348	NB4	blood:	n/a	chr6:33399285-33399295 chr6:33399302-33399309 chr6:33399300-33399311

No.	Distal block	Cell Line	Cell type
1	chr6:33263619..33269524-chr6:33392449..33400505,13	K562	blood:
2	chr6:33395899..33401993-chr6:33420102..33423796,11	MCF-7	breast:
3	chr6:33174005..33176257-chr6:33398590..33400783,2	MCF-7	breast:
4	chr6:33358270..33361160-chr6:33397889..33401606,4	K562	blood:
5	chr6:33398677..33403495-chr6:33419995..33423723,6	K562	blood:
6	chr6:33173944..33176266-chr6:33397713..33400457,2	K562	blood:
7	chr6:33392449..33400629-chr6:33419013..33424035,12	MCF-7	breast:
8	chr6:33237732..33247113-chr6:33390735..33401356,31	K562	blood:
9	chr6:33244147..33247113-chr6:33398461..33400467,3	K562	blood:
10	chr6:33394932..33398976-chr6:33412593..33416199,4	MCF-7	breast:
11	chr6:33357884..33361160-chr6:33397889..33401606,5	K562	blood:

Variant related genes	Relation type
SYNGAP1	TF binding region
ENSG00000235863	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000199036	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000213588	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000197283	Chromatin interaction
ENSG00000223501	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv885769	chr6:33377522-33412197	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	48 gene(s)	inside rSNPs	diseases
4	nsv602832	chr6:33382241-33520221	Weak transcription Active TSS Strong transcription Enhancers Flanking 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 miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv932196	chr6:33383131-33400706	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
6	nsv1019212	chr6:33398031-33413930	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33396000-33401400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:33396200-33399200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:33396200-33399800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr6:33396200-33400000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr6:33396200-33400000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr6:33396200-33400200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr6:33396200-33400200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr6:33396200-33400400	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr6:33396200-33400400	Flanking Active TSS	GM12878-XiMat	blood
10	chr6:33396400-33399000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:33396400-33399000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:33396400-33399200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:33396400-33401200	Enhancers	Spleen	Spleen
14	chr6:33396400-33401600	Enhancers	Fetal Heart	heart
15	chr6:33396400-33403000	Weak transcription	Ovary	ovary
16	chr6:33396400-33405200	Weak transcription	Psoas Muscle	Psoas
17	chr6:33396600-33399000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:33396600-33399000	Enhancers	Colon Smooth Muscle	Colon
19	chr6:33396600-33399200	Enhancers	Fetal Intestine Small	intestine
20	chr6:33396600-33399200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr6:33396600-33399400	Enhancers	HMEC	breast
22	chr6:33396600-33399600	Enhancers	Liver	Liver
23	chr6:33396600-33399600	Enhancers	Fetal Intestine Large	intestine
24	chr6:33396600-33399600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr6:33396600-33400600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr6:33396600-33400600	Enhancers	Fetal Muscle Leg	muscle
27	chr6:33396600-33400600	Enhancers	Lung	lung
28	chr6:33396600-33400800	Weak transcription	Right Atrium	heart
29	chr6:33396600-33401000	Weak transcription	HSMMtube	muscle
30	chr6:33396600-33416000	Weak transcription	Pancreas	Pancrea
31	chr6:33396800-33399000	Enhancers	Fetal Stomach	stomach
32	chr6:33396800-33399200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:33396800-33399800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:33396800-33402000	Enhancers	Fetal Lung	lung
35	chr6:33396800-33403000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:33396800-33403000	Weak transcription	Aorta	Aorta
37	chr6:33397000-33399400	Enhancers	NHEK	skin
38	chr6:33397200-33399600	Enhancers	HUVEC	blood vessel
39	chr6:33397200-33399800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr6:33397200-33400800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr6:33397600-33399000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr6:33397600-33399000	Enhancers	Duodenum Mucosa	Duodenum
43	chr6:33397600-33400000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:33397800-33399400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:33398000-33399000	Flanking Active TSS	Fetal Brain Female	brain
46	chr6:33398000-33399400	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr6:33398000-33399400	Enhancers	Stomach Mucosa	stomach
48	chr6:33398000-33399600	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr6:33398000-33399600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr6:33398000-33400000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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