Variant report

Variant	rs13199672
Chromosome Location	chr6:86304069-86304070
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:323)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr6:86302744-86304659	NB4	blood:	n/a	n/a
2	POLR2A	chr6:86302981-86304116	A549	lung:	n/a	n/a
3	MAX	chr6:86302689-86304235	HepG2	liver:	n/a	n/a
4	MYC	chr6:86303070-86304128	K562	blood:	n/a	n/a
5	POLR2A	chr6:86302803-86304254	H1-neurons	neurons:	n/a	n/a
6	TAF1	chr6:86302903-86304162	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr6:86302742-86304482	ECC-1	luminal epithelium:	n/a	n/a
8	SMC3	chr6:86304020-86304476	GM12878	blood:	n/a	n/a
9	RELA	chr6:86302853-86304408	GM15510	blood:	n/a	chr6:86304327-86304336 chr6:86304327-86304336
10	HCFC1	chr6:86302839-86304634	K562	blood:	n/a	n/a
11	POLR2A	chr6:86302873-86304207	MCF-7	breast:	n/a	n/a
12	CBX3	chr6:86302468-86304228	K562	blood:	n/a	n/a
13	POLR2A	chr6:86302849-86304719	Raji	blood:	n/a	n/a
14	POLR2A	chr6:86302973-86304148	A549	lung:	n/a	n/a
15	ATF2	chr6:86303174-86304145	GM12878	blood:	n/a	n/a
16	JUND	chr6:86303546-86304078	H1-hESC	embryonic stem cell:	n/a	n/a
17	TCF7L2	chr6:86302894-86304331	PANC-1	pancreas:	n/a	n/a
18	KAP1	chr6:86302766-86304884	HEK293	kidney:	n/a	n/a
19	POLR2A	chr6:86303087-86304197	GM10847	blood:	n/a	n/a
20	MAX	chr6:86302709-86304385	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr6:86303008-86304318	NB4	blood:	n/a	n/a
22	POLR2A	chr6:86302563-86304307	HepG2	liver:	n/a	n/a
23	BHLHE40	chr6:86302752-86304466	K562	blood:	n/a	n/a
24	POLR2A	chr6:86303029-86304071	GM12891	blood:	n/a	n/a
25	ETS1	chr6:86302945-86304084	GM12878	blood:	n/a	chr6:86303929-86303942 chr6:86303928-86303941 chr6:86303773-86303783
26	POLR2A	chr6:86302843-86304438	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:86302933-86305372	GM12878	blood:	n/a	n/a
28	TBL1XR1	chr6:86302834-86304736	K562	blood:	n/a	n/a
29	USF2	chr6:86303400-86304220	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:86303050-86304913	PANC-1	pancreas:	n/a	n/a
31	SIN3AK20	chr6:86303643-86304167	H1-hESC	embryonic stem cell:	n/a	n/a
32	TCF12	chr6:86302745-86304346	A549	lung:	n/a	n/a
33	RFX5	chr6:86303205-86304888	Hela-S3	cervix:	n/a	n/a
34	REST	chr6:86302689-86304484	H1-neurons	neurons:	n/a	chr6:86303869-86303879 chr6:86302859-86302872 chr6:86303885-86303895
35	RUNX3	chr6:86302630-86304412	GM12878	blood:	n/a	n/a
36	SIN3A	chr6:86303012-86304588	H1-hESC	embryonic stem cell:	n/a	chr6:86303886-86303895 chr6:86304122-86304133
37	ELK1	chr6:86303042-86304511	Hela-S3	cervix:	n/a	n/a
38	ZNF384	chr6:86303376-86304350	K562	blood:	n/a	n/a
39	RAD21	chr6:86303200-86304504	IMR90	lung:	n/a	n/a
40	POLR2A	chr6:86302840-86304481	GM12892	blood:	n/a	n/a
41	CTBP2	chr6:86302773-86304149	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr6:86302894-86304698	HCT-116	colon:	n/a	n/a
43	HMGN3	chr6:86303019-86304190	K562	blood:	n/a	n/a
44	TAF1	chr6:86302999-86304322	K562	blood:	n/a	n/a
45	EP300	chr6:86302913-86304323	ECC-1	luminal epithelium:	n/a	chr6:86303145-86303161 chr6:86304026-86304042 chr6:86303706-86303722
46	JUND	chr6:86303210-86304188	A549	lung:	n/a	n/a
47	TBP	chr6:86302903-86304798	GM12878	blood:	n/a	n/a
48	CREB1	chr6:86302884-86304283	GM12878	blood:	n/a	n/a
49	POLR2A	chr6:86302793-86304445	HL-60	blood:	n/a	n/a
50	MXI1	chr6:86303434-86304192	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:86299824..86305374-chr6:86350530..86356322,11	MCF-7	breast:
2	chr6:86301331..86304881-chr6:86350851..86355985,12	MCF-7	breast:
3	chr6:86304019..86306829-chr6:86313728..86315892,3	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	chr6:86245425..86248526-chr6:86302419..86304294,3	MCF-7	breast:
8	chr6:86300457..86307827-chr6:86347697..86356337,20	K562	blood:
9	chr10:17243018..17243990-chr6:86303214..86304214,3	Hela-S3	cervix:
10	chr6:86301325..86305014-chr6:86385299..86388840,4	MCF-7	breast:
11	chr1:63832950..63833773-chr6:86303351..86304176,2	NB4	blood:
12	chr6:86302271..86307129-chr6:86385631..86390073,11	MCF-7	breast:
13	chr6:86300873..86305245-chr6:86347697..86356641,19	K562	blood:
14	chr6:86298349..86307534-chr6:86383938..86391964,31	K562	blood:
15	chr6:86298806..86300763-chr6:86301374..86304077,2	MCF-7	breast:

No data

Variant related genes	Relation type
SNX14	TF binding region
ENSG00000135316	Chromatin interaction
ENSG00000107614	Chromatin interaction
ENSG00000088035	Chromatin interaction
ENSG00000135317	Chromatin interaction
ENSG00000203875	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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