Variant report

Variant	rs577215123
Chromosome Location	chr6:33399437-33399438
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	ELF1	chr6:33398770-33400290	GM12878	blood:	n/a	chr6:33398973-33398985 chr6:33398859-33398872
2	ZNF143	chr6:33398801-33399439	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3A	chr6:33398695-33399700	H1-hESC	embryonic stem cell:	n/a	chr6:33398933-33398942 chr6:33398970-33398981
4	CTCF	chr6:33399400-33399550	GM12873	blood:	n/a	chr6:33399499-33399517 chr6:33399502-33399511
5	POLR2A	chr6:33398873-33399730	H1-hESC	embryonic stem cell:	n/a	n/a
6	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
7	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
8	HDAC2	chr6:33399073-33399500	H1-hESC	embryonic stem cell:	n/a	chr6:33399249-33399263
9	CREB1	chr6:33398708-33399510	H1-hESC	embryonic stem cell:	n/a	n/a
10	TBP	chr6:33398826-33399553	H1-hESC	embryonic stem cell:	n/a	n/a
11	TEAD4	chr6:33398784-33399487	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr6:33399400-33399550	GM12872	blood:	n/a	chr6:33399499-33399517 chr6:33399502-33399511
13	EP300	chr6:33398671-33399482	H1-hESC	embryonic stem cell:	n/a	chr6:33398920-33398936
14	MAX	chr6:33398751-33399689	H1-hESC	embryonic stem cell:	n/a	chr6:33399285-33399295 chr6:33399302-33399309 chr6:33399420-33399430 chr6:33399300-33399311
15	MAX	chr6:33398720-33399447	H1-hESC	embryonic stem cell:	n/a	chr6:33399285-33399295 chr6:33399302-33399309 chr6:33399420-33399430 chr6:33399300-33399311
16	MXI1	chr6:33398710-33399455	H1-hESC	embryonic stem cell:	n/a	chr6:33398901-33398916 chr6:33399333-33399342
17	SIN3AK20	chr6:33398646-33399531	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr6:33398042-33399915	SK-N-MC	brain:	n/a	n/a
19	MAX	chr6:33398789-33399659	H1-hESC	embryonic stem cell:	n/a	chr6:33399285-33399295 chr6:33399302-33399309 chr6:33399420-33399430 chr6:33399300-33399311
20	TEAD4	chr6:33398820-33399529	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAZ	chr6:33398235-33399507	IMR90	lung:	n/a	chr6:33399285-33399295 chr6:33399302-33399309 chr6:33399420-33399430 chr6:33399300-33399311
22	ATF2	chr6:33398954-33399529	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr6:33398779-33399494	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr6:33399018-33399827	H1-hESC	embryonic stem cell:	n/a	chr6:33399285-33399295 chr6:33399302-33399309 chr6:33399420-33399430 chr6:33399300-33399311
25	CHD2	chr6:33398791-33399488	H1-hESC	embryonic stem cell:	n/a	chr6:33399261-33399271
26	ATF2	chr6:33398645-33399545	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTBP2	chr6:33398682-33399452	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr6:33398547-33399564	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr6:33398112-33400875	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr6:33398800-33401032	H1-hESC	embryonic stem cell:	n/a	n/a
31	MXI1	chr6:33398438-33399602	SK-N-SH	brain:	n/a	chr6:33399483-33399492 chr6:33398901-33398916 chr6:33399333-33399342
32	ZBTB7A	chr6:33399415-33399804	K562	blood:	n/a	n/a
33	MAX	chr6:33398816-33399448	NB4	blood:	n/a	chr6:33399285-33399295 chr6:33399302-33399309 chr6:33399420-33399430 chr6:33399300-33399311
34	YY1	chr6:33398618-33399497	H1-hESC	embryonic stem cell:	n/a	chr6:33398973-33398987 chr6:33398996-33399008
35	MTA3	chr6:33397969-33399774	GM12878	blood:	n/a	n/a
36	POLR2A	chr6:33398828-33399546	H1-hESC	embryonic stem cell:	n/a	n/a
37	JUND	chr6:33399173-33399458	H1-hESC	embryonic stem cell:	n/a	n/a
38	TAF1	chr6:33398820-33399465	H1-hESC	embryonic stem cell:	n/a	n/a

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	chr6:33357884..33361160-chr6:33397889..33401606,5	K562	blood:

Variant related genes	Relation type
SYNGAP1	TF binding region
ENSG00000213588	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000199036	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000231500	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:125 , 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	chr6:33396200-33399800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
3	chr6:33396200-33400000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr6:33396200-33400000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr6:33396200-33400200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr6:33396200-33400200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr6:33396200-33400400	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr6:33396200-33400400	Flanking Active TSS	GM12878-XiMat	blood
9	chr6:33396400-33401200	Enhancers	Spleen	Spleen
10	chr6:33396400-33401600	Enhancers	Fetal Heart	heart
11	chr6:33396400-33403000	Weak transcription	Ovary	ovary
12	chr6:33396400-33405200	Weak transcription	Psoas Muscle	Psoas
13	chr6:33396600-33399600	Enhancers	Liver	Liver
14	chr6:33396600-33399600	Enhancers	Fetal Intestine Large	intestine
15	chr6:33396600-33399600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr6:33396600-33400600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr6:33396600-33400600	Enhancers	Fetal Muscle Leg	muscle
18	chr6:33396600-33400600	Enhancers	Lung	lung
19	chr6:33396600-33400800	Weak transcription	Right Atrium	heart
20	chr6:33396600-33401000	Weak transcription	HSMMtube	muscle
21	chr6:33396600-33416000	Weak transcription	Pancreas	Pancrea
22	chr6:33396800-33399800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:33396800-33402000	Enhancers	Fetal Lung	lung
24	chr6:33396800-33403000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:33396800-33403000	Weak transcription	Aorta	Aorta
26	chr6:33397200-33399600	Enhancers	HUVEC	blood vessel
27	chr6:33397200-33399800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr6:33397200-33400800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr6:33397600-33400000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:33398000-33399600	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr6:33398000-33399600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr6:33398000-33400000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr6:33398000-33400200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr6:33398000-33401400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:33398200-33399600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:33398200-33399600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:33398200-33399600	Enhancers	Small Intestine	intestine
38	chr6:33398200-33399600	Enhancers	Hela-S3	cervix
39	chr6:33398200-33400200	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr6:33398200-33401400	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr6:33398200-33401400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:33398400-33399600	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr6:33398400-33399600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:33398400-33399800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:33398400-33399800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:33398400-33400200	Enhancers	Placenta	Placenta
47	chr6:33398400-33401800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:33398400-33402000	Enhancers	Right Ventricle	heart
49	chr6:33398600-33400800	Flanking Active TSS	Fetal Thymus	thymus
50	chr6:33398600-33401200	Flanking Active TSS	Primary B cells from cord blood	blood

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