Variant report

Variant	rs372656938
Chromosome Location	chr6:86303681-86303682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:513)
CpG islands
(count:61)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:513 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr6:86303455-86303931	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr6:86302744-86304659	NB4	blood:	n/a	n/a
3	POLR2A	chr6:86302981-86304116	A549	lung:	n/a	n/a
4	MAX	chr6:86302689-86304235	HepG2	liver:	n/a	n/a
5	MYC	chr6:86303070-86304128	K562	blood:	n/a	n/a
6	POLR2A	chr6:86302803-86304254	H1-neurons	neurons:	n/a	n/a
7	RAD21	chr6:86303104-86303911	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF1	chr6:86303011-86304053	HepG2	liver:	n/a	n/a
9	TAF1	chr6:86302903-86304162	ECC-1	luminal epithelium:	n/a	n/a
10	MAX	chr6:86302742-86304482	ECC-1	luminal epithelium:	n/a	n/a
11	MAFK	chr6:86303541-86303782	HepG2	liver:	n/a	n/a
12	MYC	chr6:86303566-86303862	MCF10A-Er-Src	breast:	n/a	n/a
13	CTCF	chr6:86303315-86304025	K562	blood:	n/a	n/a
14	RELA	chr6:86302853-86304408	GM15510	blood:	n/a	chr6:86304327-86304336 chr6:86304327-86304336
15	HCFC1	chr6:86302839-86304634	K562	blood:	n/a	n/a
16	POLR2A	chr6:86302873-86304207	MCF-7	breast:	n/a	n/a
17	CBX3	chr6:86302468-86304228	K562	blood:	n/a	n/a
18	POLR2A	chr6:86302849-86304719	Raji	blood:	n/a	n/a
19	POLR2A	chr6:86302973-86304148	A549	lung:	n/a	n/a
20	SETDB1	chr6:86302904-86303850	K562	blood:	n/a	n/a
21	ATF2	chr6:86303174-86304145	GM12878	blood:	n/a	n/a
22	E2F6	chr6:86303437-86303757	K562	blood:	n/a	chr6:86303706-86303715
23	JUND	chr6:86303546-86304078	H1-hESC	embryonic stem cell:	n/a	n/a
24	SP2	chr6:86303498-86303690	K562	blood:	n/a	n/a
25	TCF7L2	chr6:86302894-86304331	PANC-1	pancreas:	n/a	n/a
26	KAP1	chr6:86302766-86304884	HEK293	kidney:	n/a	n/a
27	POLR2A	chr6:86303087-86304197	GM10847	blood:	n/a	n/a
28	JUND	chr6:86303203-86303943	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr6:86302709-86304385	SK-N-SH	brain:	n/a	n/a
30	TCF3	chr6:86303239-86303880	GM12878	blood:	n/a	n/a
31	ATF3	chr6:86303523-86303985	K562	blood:	n/a	n/a
32	POLR2A	chr6:86303008-86304318	NB4	blood:	n/a	n/a
33	POLR2A	chr6:86302563-86304307	HepG2	liver:	n/a	n/a
34	BHLHE40	chr6:86302752-86304466	K562	blood:	n/a	n/a
35	POLR2A	chr6:86303029-86304071	GM12891	blood:	n/a	n/a
36	PBX3	chr6:86303623-86304009	A549	lung:	n/a	chr6:86303790-86303810
37	ETS1	chr6:86302945-86304084	GM12878	blood:	n/a	chr6:86303929-86303942 chr6:86303928-86303941 chr6:86303773-86303783
38	POLR2A	chr6:86302843-86304438	GM12878	blood:	n/a	n/a
39	POLR2A	chr6:86302933-86305372	GM12878	blood:	n/a	n/a
40	TBL1XR1	chr6:86302834-86304736	K562	blood:	n/a	n/a
41	E2F6	chr6:86302885-86303885	A549	lung:	n/a	chr6:86303706-86303715
42	POLR2A	chr6:86303046-86304053	A549	lung:	n/a	n/a
43	SP1	chr6:86303399-86303973	A549	lung:	n/a	chr6:86303707-86303719 chr6:86303512-86303521 chr6:86303512-86303521 chr6:86303707-86303719 chr6:86303513-86303522
44	USF2	chr6:86303400-86304220	GM12878	blood:	n/a	n/a
45	REST	chr6:86303212-86303897	SK-N-SH	brain:	n/a	chr6:86303869-86303879 chr6:86303885-86303895
46	POLR2A	chr6:86303050-86304913	PANC-1	pancreas:	n/a	n/a
47	SIN3AK20	chr6:86303643-86304167	H1-hESC	embryonic stem cell:	n/a	n/a
48	NR2F2	chr6:86303268-86303821	K562	blood:	n/a	n/a
49	TCF12	chr6:86302745-86304346	A549	lung:	n/a	n/a
50	RFX5	chr6:86303205-86304888	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:86303669-86303719	NHDF-neo	bronchial:	n/a
2	chr6:86303669-86303719	HAEpiC	amniotic membrane:	n/a
3	chr6:86303669-86303719	RPTEC	kidney:	n/a
4	chr6:86303669-86303719	GM12891	blood:	n/a
5	chr6:86303669-86303719	HMEC	breast:	n/a
6	chr6:86303669-86303719	Hepatocyte	liver:	n/a
7	chr6:86303669-86303719	HPAEpiC	pulmonary alveolar:	n/a
8	chr6:86303669-86303719	AG09319	gingival:	n/a
9	chr6:86303669-86303719	NB4	blood:	n/a
10	chr6:86303669-86303719	HCM	heart:	n/a
11	chr6:86303669-86303719	Caco-2	colon:	n/a
12	chr6:86303669-86303719	SK-N-SH_RA	brain:	n/a
13	chr6:86303669-86303719	LNCaP	prostate:	n/a
14	chr6:86303669-86303719	HUVEC	blood vessel:	n/a
15	chr6:86303669-86303719	GM06990	blood:	n/a
16	chr6:86303669-86303719	HepG2	liver:	n/a
17	chr6:86303669-86303719	ProgFib	skin:	n/a
18	chr6:86303669-86303719	SKMC	muscle:	n/a
19	chr6:86303669-86303719	HCPEpiC	choroid plexus:	n/a
20	chr6:86303669-86303719	PFSK-1	brain:	n/a
21	chr6:86303669-86303719	H1-hESC	embryonic stem cell:	embryo
22	chr6:86303669-86303719	HCT-116	colon:	n/a
23	chr6:86303669-86303719	AG04450	lung:	fetal
24	chr6:86303669-86303719	BE2_C	brain:	n/a
25	chr6:86303669-86303719	HEEpiC	esophagus:	n/a
26	chr6:86303669-86303719	T-47D	breast:	n/a
27	chr6:86303669-86303719	HRCEpiC	kidney:	n/a
28	chr6:86303669-86303719	HEK293	kidney:	embryo
29	chr6:86303669-86303719	SK-N-MC	brain:	n/a
30	chr6:86303669-86303719	GM19239	blood:	n/a
31	chr6:86303669-86303719	HCF	heart:	n/a
32	chr6:86303669-86303719	IMR90	lung:	fetal
33	chr6:86303669-86303719	SAEC	small airway:	n/a
34	chr6:86303669-86303719	HRE	kidney:	n/a
35	chr6:86303669-86303719	A549	lung:	n/a
36	chr6:86303669-86303719	AG10803	skin:	n/a
37	chr6:86303669-86303719	MCF10A-Er-Src	breast:	n/a
38	chr6:86303669-86303719	NH-A	brain:	n/a
39	chr6:86303669-86303719	GM12878	blood:	n/a
40	chr6:86303669-86303719	Hela-S3	cervix:	n/a
41	chr6:86303669-86303719	PANC-1	pancreas:	n/a
42	chr6:86303669-86303719	NHBE	bronchial:	n/a
43	chr6:86303669-86303719	ovcar-3	ovarian:	n/a
44	chr6:86303669-86303719	HNPCEpiC	eye:	n/a
45	chr6:86303669-86303719	SK-N-SH	brain:	n/a
46	chr6:86303669-86303719	CMK	blood:	n/a
47	chr6:86303669-86303719	NT2-D1	testis:	n/a
48	chr6:86303669-86303719	BJ	skin:	n/a
49	chr6:86303669-86303719	AG09309	skin:	n/a
50	chr6:86303669-86303719	HRPEpiC	eye:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:86252970..86257934-chr6:86299533..86304034,5	K562	blood:
2	chr6:86299824..86305374-chr6:86350530..86356322,11	MCF-7	breast:
3	chr6:86301331..86304881-chr6:86350851..86355985,12	MCF-7	breast:
4	chr6:86298683..86300956-chr6:86302311..86304856,2	MCF-7	breast:
5	chr6:86289336..86292710-chr6:86302948..86306481,4	MCF-7	breast:
6	chr6:86300286..86310605-chr6:86384413..86390498,39	K562	blood:
7	chr16:28936701..28937234-chr6:86303014..86303832,2	Hela-S3	cervix:
8	chr6:86245425..86248526-chr6:86302419..86304294,3	MCF-7	breast:
9	chr6:86300457..86307827-chr6:86347697..86356337,20	K562	blood:
10	chr10:17243018..17243990-chr6:86303214..86304214,3	Hela-S3	cervix:
11	chr6:86301325..86305014-chr6:86385299..86388840,4	MCF-7	breast:
12	chr1:63832950..63833773-chr6:86303351..86304176,2	NB4	blood:
13	chr6:86302271..86307129-chr6:86385631..86390073,11	MCF-7	breast:
14	chr6:86300873..86305245-chr6:86347697..86356641,19	K562	blood:
15	chr6:86298349..86307534-chr6:86383938..86391964,31	K562	blood:
16	chr6:43026849..43027616-chr6:86303059..86303707,2	Hela-S3	cervix:
17	chr6:86298806..86300763-chr6:86301374..86304077,2	MCF-7	breast:

No data

Variant related genes	Relation type
SNX14	TF binding region
SNX14	CpG island
ENSG00000203875	Chromatin interaction
ENSG00000107614	Chromatin interaction
ENSG00000135316	Chromatin interaction
ENSG00000088035	Chromatin interaction
ENSG00000135317	Chromatin interaction
ENSG00000137171	Chromatin interaction
ENSG00000177548	Chromatin interaction
ENSG00000112651	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	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	esv1792638	chr6:86224053-86336300	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3351743	chr6:86286282-86308720	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv5383	chr6:86303223-86348023	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr6:86301800-86304600	Active TSS	NH-A	brain
2	chr6:86301800-86304600	Active TSS	NHDF-Ad	bronchial
3	chr6:86301800-86304800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:86301800-86305000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:86302000-86304400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:86302000-86304600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:86302000-86304800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:86302000-86304800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr6:86302000-86304800	Active TSS	HSMMtube	muscle
10	chr6:86302000-86306200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:86302200-86304600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:86302200-86304600	Active TSS	Brain Angular Gyrus	brain
13	chr6:86302200-86304600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:86302200-86304600	Active TSS	Fetal Brain Female	brain
15	chr6:86302200-86304600	Active TSS	Fetal Kidney	kidney
16	chr6:86302200-86304600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr6:86302200-86304600	Active TSS	Stomach Smooth Muscle	stomach
18	chr6:86302200-86304600	Active TSS	A549	lung
19	chr6:86302200-86304600	Active TSS	NHLF	lung
20	chr6:86302200-86304800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:86302200-86304800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:86302200-86304800	Active TSS	Brain Anterior Caudate	brain
23	chr6:86302200-86304800	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr6:86302200-86304800	Active TSS	Rectal Smooth Muscle	rectum
25	chr6:86302200-86304800	Active TSS	HSMM	muscle
26	chr6:86302200-86304800	Active TSS	Osteobl	bone
27	chr6:86302200-86305000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:86302200-86305000	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr6:86302200-86305000	Active TSS	HMEC	breast
30	chr6:86302200-86305600	Active TSS	K562	blood
31	chr6:86302400-86304200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:86302400-86304200	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr6:86302400-86304200	Active TSS	HUVEC	blood vessel
34	chr6:86302400-86304400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:86302400-86304400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:86302400-86304400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:86302400-86304400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:86302400-86304400	Active TSS	Liver	Liver
39	chr6:86302400-86304400	Active TSS	Brain Hippocampus Middle	brain
40	chr6:86302400-86304400	Active TSS	Esophagus	oesophagus
41	chr6:86302400-86304400	Active TSS	Hela-S3	cervix
42	chr6:86302400-86304600	Active TSS	Brain Cingulate Gyrus	brain
43	chr6:86302400-86304600	Active TSS	Colon Smooth Muscle	Colon
44	chr6:86302400-86304600	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr6:86302400-86304600	Active TSS	Fetal Heart	heart
46	chr6:86302400-86304600	Active TSS	Left Ventricle	heart
47	chr6:86302400-86304600	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr6:86302400-86304600	Active TSS	Right Ventricle	heart
49	chr6:86302400-86304600	Active TSS	Thymus	Thymus
50	chr6:86302400-86304800	Active TSS	Muscle Satellite Cultured Cells	--

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