Variant report

Variant	rs373950359
Chromosome Location	chr6:86353205-86353206
allele	A/C
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	chr6:86351174-86354473	GM12891	blood:	n/a	n/a
2	CREB1	chr6:86351687-86354189	GM12878	blood:	n/a	chr6:86353040-86353053
3	RCOR1	chr6:86352307-86354551	K562	blood:	n/a	n/a
4	SIN3AK20	chr6:86352333-86353288	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:86351331-86354153	GM19193	blood:	n/a	n/a
6	MAZ	chr6:86351729-86354155	GM12878	blood:	n/a	chr6:86351734-86351745 chr6:86351735-86351744 chr6:86351733-86351746 chr6:86351734-86351745 chr6:86351735-86351742 chr6:86353234-86353244 chr6:86351734-86351745 chr6:86351733-86351746 chr6:86351731-86351746 chr6:86351735-86351745
7	YY1	chr6:86352097-86353323	SK-N-SH	brain:	n/a	chr6:86352347-86352356 chr6:86352611-86352627 chr6:86352351-86352365 chr6:86353251-86353265 chr6:86352616-86352626 chr6:86352347-86352361 chr6:86352604-86352626 chr6:86352610-86352627 chr6:86353255-86353269 chr6:86352614-86352626 chr6:86352616-86352626
8	SIN3AK20	chr6:86351328-86353307	K562	blood:	n/a	n/a
9	SPI1	chr6:86352971-86353295	GM12891	blood:	n/a	chr6:86353230-86353243
10	POLR2A	chr6:86351303-86354154	K562	blood:	n/a	n/a
11	BHLHE40	chr6:86352441-86354008	HepG2	liver:	n/a	chr6:86353372-86353388
12	MYC	chr6:86351154-86354425	A549	lung:	n/a	chr6:86351734-86351745 chr6:86351735-86351744 chr6:86351733-86351746 chr6:86351734-86351745 chr6:86351735-86351742 chr6:86353234-86353244 chr6:86351734-86351745 chr6:86351733-86351746 chr6:86351731-86351746 chr6:86351735-86351745 chr6:86351735-86351745
13	POLR2A	chr6:86352306-86353225	HepG2	liver:	n/a	n/a
14	CTBP2	chr6:86352210-86353944	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr6:86351197-86354087	K562	blood:	n/a	chr6:86351734-86351745 chr6:86351735-86351744 chr6:86351733-86351746 chr6:86351734-86351745 chr6:86351735-86351742 chr6:86353234-86353244 chr6:86351734-86351745 chr6:86351733-86351746 chr6:86351731-86351746 chr6:86351735-86351745 chr6:86351735-86351745
16	POLR2A	chr6:86351593-86354076	MCF-7	breast:	n/a	n/a
17	JUND	chr6:86352809-86353217	H1-hESC	embryonic stem cell:	n/a	n/a
18	RFX5	chr6:86352172-86354511	Hela-S3	cervix:	n/a	n/a
19	ELF1	chr6:86351995-86353900	MCF-7	breast:	n/a	chr6:86352335-86352346
20	NFIC	chr6:86352442-86353230	HepG2	liver:	n/a	n/a
21	FOXP2	chr6:86352875-86353316	PFSK-1	brain:	n/a	n/a
22	HDAC2	chr6:86352748-86353276	H1-hESC	embryonic stem cell:	n/a	n/a
23	STAT1	chr6:86352855-86353255	GM12878	blood:	n/a	chr6:86353236-86353248 chr6:86353215-86353227 chr6:86353230-86353242
24	POLR2A	chr6:86351664-86354190	ProgFib	skin:	n/a	n/a
25	TEAD4	chr6:86352166-86353216	K562	blood:	n/a	n/a
26	PML	chr6:86352426-86353316	MCF-7	breast:	n/a	n/a
27	MAFK	chr6:86352399-86354282	Hela-S3	cervix:	n/a	n/a
28	MYC	chr6:86352429-86354085	HepG2	liver:	n/a	chr6:86353234-86353244
29	POLR2A	chr6:86351519-86354693	PANC-1	pancreas:	n/a	n/a
30	SIN3A	chr6:86351181-86354556	H1-hESC	embryonic stem cell:	n/a	chr6:86352350-86352363
31	MAX	chr6:86351430-86354098	MCF-7	breast:	n/a	chr6:86351734-86351745 chr6:86351735-86351744 chr6:86351733-86351746 chr6:86351734-86351745 chr6:86351735-86351742 chr6:86353234-86353244 chr6:86351734-86351745 chr6:86351733-86351746 chr6:86351731-86351746 chr6:86351735-86351745 chr6:86351735-86351745
32	POLR2A	chr6:86351219-86354091	K562	blood:	n/a	n/a
33	HEY1	chr6:86351287-86353246	K562	blood:	n/a	chr6:86352348-86352363
34	MAX	chr6:86352807-86354004	K562	blood:	n/a	chr6:86353234-86353244
35	ETS1	chr6:86352456-86353246	A549	lung:	n/a	chr6:86353159-86353170
36	EP300	chr6:86352410-86353221	GM12878	blood:	n/a	n/a
37	POLR2A	chr6:86351250-86354180	GM12892	blood:	n/a	n/a
38	POLR2A	chr6:86351241-86354579	MCF10A-Er-Src	breast:	n/a	n/a
39	REST	chr6:86352036-86353230	H1-neurons	neurons:	n/a	chr6:86352441-86352454
40	POLR2A	chr6:86351736-86354794	PFSK-1	brain:	n/a	n/a
41	NFIC	chr6:86352056-86353313	GM12878	blood:	n/a	n/a
42	HCFC1	chr6:86350984-86354685	Hela-S3	cervix:	n/a	n/a
43	JUN	chr6:86352407-86354455	K562	blood:	n/a	chr6:86353255-86353264 chr6:86353377-86353386
44	POLR2A	chr6:86351123-86354133	Hela-S3	cervix:	n/a	n/a
45	TAF7	chr6:86351597-86353226	H1-hESC	embryonic stem cell:	n/a	n/a
46	MYC	chr6:86351645-86353966	MCF-7	breast:	n/a	chr6:86351734-86351745 chr6:86351735-86351744 chr6:86351733-86351746 chr6:86351734-86351745 chr6:86351735-86351742 chr6:86353234-86353244 chr6:86351734-86351745 chr6:86351733-86351746 chr6:86351731-86351746 chr6:86351735-86351745 chr6:86351735-86351745
47	MYC	chr6:86350655-86354442	MCF10A-Er-Src	breast:	n/a	chr6:86351734-86351745 chr6:86351735-86351744 chr6:86351733-86351746 chr6:86351734-86351745 chr6:86351735-86351742 chr6:86353234-86353244 chr6:86351734-86351745 chr6:86351733-86351746 chr6:86351731-86351746 chr6:86351735-86351745 chr6:86351735-86351745
48	POLR2A	chr6:86350981-86354506	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr6:86352450-86353290	A549	lung:	n/a	n/a
50	MAZ	chr6:86352503-86354071	HepG2	liver:	n/a	chr6:86353234-86353244

No.	Distal block	Cell Line	Cell type
1	chr20:46413152..46415353-chr6:86350444..86353443,6	MCF-7	breast:
2	chr14:64319297..64319918-chr6:86352603..86353316,2	Hela-S3	cervix:
3	chr20:62168632..62169262-chr6:86352659..86353308,2	Hela-S3	cervix:
4	chr6:86338689..86357756-chr6:86378394..86390434,115	MCF-7	breast:
5	chr16:4475412..4476300-chr6:86352840..86353822,2	Hela-S3	cervix:
6	chr6:86320215..86324957-chr6:86350476..86355138,8	MCF-7	breast:
7	chr6:86299824..86305374-chr6:86350530..86356322,11	MCF-7	breast:
8	chr13:48611678..48612294-chr6:86352743..86353305,2	Hela-S3	cervix:
9	chr6:86352030..86354482-chr6:87864521..87866716,2	MCF-7	breast:
10	chr6:86300873..86305245-chr6:86347697..86356641,19	K562	blood:
11	chr6:86300457..86307827-chr6:86347697..86356337,20	K562	blood:
12	chr19:50380296..50381317-chr6:86353205..86354186,3	Hela-S3	cervix:
13	chr6:86301331..86304881-chr6:86350851..86355985,12	MCF-7	breast:
14	chr1:100435521..100436021-chr6:86353095..86354012,2	NB4	blood:
15	chr6:86288404..86291892-chr6:86352318..86354794,4	MCF-7	breast:
16	chr16:31469119..31472117-chr6:86351411..86353551,2	MCF-7	breast:
17	chr20:45947519..45949919-chr6:86351890..86353788,2	MCF-7	breast:
18	chr4:120133686..120134675-chr6:86352822..86353423,2	Hela-S3	cervix:
19	chr6:86350291..86355305-chr6:86366070..86378212,20	MCF-7	breast:
20	chr6:84138710..84141481-chr6:86352138..86354158,2	MCF-7	breast:
21	chr6:86322096..86325209-chr6:86349720..86353694,5	K562	blood:
22	chr1:28974647..28975336-chr6:86352945..86353511,2	Hela-S3	cervix:
23	chr6:86323129..86325610-chr6:86352120..86353787,3	K562	blood:

Variant related genes	Relation type
SYNCRIP	TF binding region
ENSG00000188994	Chromatin interaction
ENSG00000104946	Chromatin interaction
ENSG00000203875	Chromatin interaction
ENSG00000103423	Chromatin interaction
ENSG00000065833	Chromatin interaction
ENSG00000136159	Chromatin interaction
ENSG00000054654	Chromatin interaction
ENSG00000136143	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000178636	Chromatin interaction
ENSG00000272008	Chromatin interaction
ENSG00000135317	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000220563	Chromatin interaction
ENSG00000196562	Chromatin interaction
ENSG00000271793	Chromatin interaction
ENSG00000145390	Chromatin interaction
ENSG00000101213	Chromatin interaction
ENSG00000262246	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000204673	Chromatin interaction
ENSG00000117620	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv886334	chr6:86214507-86394403	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
4	esv3397854	chr6:86352258-86355106	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86349000-86354600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:86349800-86354200	Active TSS	NHLF	lung
3	chr6:86350400-86354200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:86350400-86354200	Active TSS	Fetal Intestine Small	intestine
5	chr6:86350400-86354400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:86350400-86354400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:86350400-86354400	Active TSS	Fetal Intestine Large	intestine
8	chr6:86350400-86354600	Active TSS	Aorta	Aorta
9	chr6:86350400-86354600	Active TSS	Ovary	ovary
10	chr6:86350400-86354600	Active TSS	Right Ventricle	heart
11	chr6:86350400-86354800	Active TSS	Fetal Muscle Leg	muscle
12	chr6:86350400-86355200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr6:86350400-86355200	Active TSS	Psoas Muscle	Psoas
14	chr6:86350600-86354200	Active TSS	Fetal Kidney	kidney
15	chr6:86350600-86354400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr6:86350600-86355000	Active TSS	HSMMtube	muscle
17	chr6:86350600-86355200	Active TSS	Stomach Smooth Muscle	stomach
18	chr6:86350600-86355600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr6:86350800-86354200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:86350800-86354200	Active TSS	Fetal Stomach	stomach
21	chr6:86350800-86354400	Active TSS	HMEC	breast
22	chr6:86350800-86354600	Active TSS	Fetal Muscle Trunk	muscle
23	chr6:86350800-86354600	Active TSS	NHDF-Ad	bronchial
24	chr6:86350800-86355200	Active TSS	Colonic Mucosa	Colon
25	chr6:86350800-86355200	Active TSS	A549	lung
26	chr6:86351000-86353800	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr6:86351000-86354000	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr6:86351000-86354000	Active TSS	HUVEC	blood vessel
29	chr6:86351000-86354200	Active TSS	H1 Cell Line	embryonic stem cell
30	chr6:86351000-86354200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:86351000-86354200	Active TSS	Fetal Lung	lung
32	chr6:86351000-86354200	Active TSS	Hela-S3	cervix
33	chr6:86351000-86354400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:86351000-86354400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:86351000-86354400	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr6:86351000-86354400	Active TSS	GM12878-XiMat	blood
37	chr6:86351000-86354400	Active TSS	NH-A	brain
38	chr6:86351000-86354600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:86351000-86355000	Active TSS	Rectal Smooth Muscle	rectum
40	chr6:86351200-86354000	Active TSS	Esophagus	oesophagus
41	chr6:86351200-86354000	Active TSS	Gastric	stomach
42	chr6:86351200-86354000	Active TSS	Lung	lung
43	chr6:86351200-86354000	Active TSS	Stomach Mucosa	stomach
44	chr6:86351200-86354200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:86351200-86354200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr6:86351200-86354200	Active TSS	Muscle Satellite Cultured Cells	--
47	chr6:86351200-86354200	Active TSS	Left Ventricle	heart
48	chr6:86351200-86354200	Active TSS	Small Intestine	intestine
49	chr6:86351200-86354200	Active TSS	Thymus	Thymus
50	chr6:86351200-86354400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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