Variant report

Variant	rs6899604
Chromosome Location	chr6:167412913-167412914
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	EP300	chr6:167412311-167413048	HepG2	liver:	n/a	chr6:167412352-167412368 chr6:167412355-167412371 chr6:167412645-167412661 chr6:167412352-167412361 chr6:167412785-167412801
2	CTCF	chr6:167412331-167412934	GM12878	blood:	n/a	chr6:167412762-167412775 chr6:167412759-167412777
3	MXI1	chr6:167410690-167413888	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr6:167412232-167413567	HepG2	liver:	n/a	n/a
5	EP300	chr6:167412391-167413000	GM12878	blood:	n/a	chr6:167412645-167412661 chr6:167412785-167412801
6	BRCA1	chr6:167412538-167413026	Hela-S3	cervix:	n/a	n/a
7	ZBTB7A	chr6:167412482-167412961	HepG2	liver:	n/a	chr6:167412627-167412634
8	WRNIP1	chr6:167412819-167412981	GM12878	blood:	n/a	n/a
9	MYC	chr6:167412136-167413565	K562	blood:	n/a	n/a
10	SIN3AK20	chr6:167412086-167413234	MCF-7	breast:	n/a	n/a
11	POU2F2	chr6:167412308-167412935	GM12878	blood:	n/a	chr6:167412658-167412670
12	MAX	chr6:167412239-167413016	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr6:167411833-167413824	K562	blood:	n/a	n/a
14	POLR2A	chr6:167412380-167413552	HepG2	liver:	n/a	n/a
15	TCF12	chr6:167412299-167413309	ECC-1	luminal epithelium:	n/a	chr6:167412364-167412374 chr6:167412373-167412383
16	TCF7L2	chr6:167412120-167413046	PANC-1	pancreas:	n/a	n/a
17	TAF1	chr6:167412281-167413105	K562	blood:	n/a	n/a
18	POLR2A	chr6:167412200-167413248	MCF-7	breast:	n/a	n/a
19	HA-E2F1	chr6:167411841-167413279	Hela-S3	cervix:	n/a	chr6:167412658-167412667 chr6:167412069-167412078 chr6:167412074-167412084 chr6:167411948-167411958 chr6:167412750-167412759
20	EGR1	chr6:167412327-167412921	K562	blood:	n/a	chr6:167412611-167412625 chr6:167412656-167412670 chr6:167412657-167412667 chr6:167412749-167412759 chr6:167412659-167412672
21	TBL1XR1	chr6:167412451-167412965	GM12878	blood:	n/a	n/a
22	E2F6	chr6:167411056-167413529	K562	blood:	n/a	chr6:167412658-167412667 chr6:167412069-167412078 chr6:167412074-167412084 chr6:167411948-167411958 chr6:167412750-167412759 chr6:167411611-167411621
23	REST	chr6:167412767-167413005	SK-N-SH	brain:	n/a	chr6:167412769-167412782
24	POLR2A	chr6:167412201-167413107	PFSK-1	brain:	n/a	n/a
25	EP300	chr6:167412717-167413060	K562	blood:	n/a	chr6:167412785-167412801
26	RCOR1	chr6:167412227-167413429	K562	blood:	n/a	n/a
27	YY1	chr6:167412578-167413532	SK-N-SH_RA	brain:	n/a	chr6:167412650-167412661 chr6:167412658-167412667 chr6:167412826-167412840 chr6:167412611-167412625
28	POLR2A	chr6:167411008-167413402	K562	blood:	n/a	n/a
29	MAX	chr6:167411812-167413146	GM12878	blood:	n/a	n/a
30	BHLHE40	chr6:167412265-167413504	K562	blood:	n/a	chr6:167412603-167412619
31	MAX	chr6:167410910-167413570	K562	blood:	n/a	chr6:167411336-167411346 chr6:167411672-167411681
32	YY1	chr6:167412607-167413477	GM12878	blood:	n/a	chr6:167412650-167412661 chr6:167412658-167412667 chr6:167412826-167412840 chr6:167412611-167412625
33	NFIC	chr6:167412672-167413086	HepG2	liver:	n/a	n/a
34	PAX5	chr6:167412617-167412941	GM12878	blood:	n/a	chr6:167412826-167412835
35	ZBTB7A	chr6:167411913-167412979	K562	blood:	n/a	chr6:167412627-167412634
36	EGR1	chr6:167412322-167412976	MCF-7	breast:	n/a	chr6:167412611-167412625 chr6:167412656-167412670 chr6:167412657-167412667 chr6:167412749-167412759 chr6:167412659-167412672
37	ELF1	chr6:167411123-167413415	GM12878	blood:	n/a	chr6:167412291-167412300 chr6:167412289-167412302 chr6:167413015-167413027 chr6:167412290-167412301
38	SIN3AK20	chr6:167412130-167413517	K562	blood:	n/a	n/a
39	MAX	chr6:167412351-167413870	Hela-S3	cervix:	n/a	n/a
40	MXI1	chr6:167411099-167413123	Hela-S3	cervix:	n/a	n/a
41	SP1	chr6:167412423-167412938	A549	lung:	n/a	chr6:167412748-167412760 chr6:167412704-167412717 chr6:167412764-167412778 chr6:167412790-167412804 chr6:167412750-167412759 chr6:167412794-167412803 chr6:167412795-167412804 chr6:167412795-167412804 chr6:167412657-167412666 chr6:167412623-167412633 chr6:167412657-167412667 chr6:167412793-167412805 chr6:167412656-167412668 chr6:167412656-167412668 chr6:167412767-167412779 chr6:167412622-167412634 chr6:167412623-167412632 chr6:167412749-167412763 chr6:167412657-167412667 chr6:167412623-167412633 chr6:167412657-167412666 chr6:167412623-167412637 chr6:167412658-167412667 chr6:167412793-167412805 chr6:167412749-167412758 chr6:167412623-167412632 chr6:167412622-167412634 chr6:167412657-167412671 chr6:167412624-167412633
42	YY1	chr6:167412404-167413352	ECC-1	luminal epithelium:	n/a	chr6:167412650-167412661 chr6:167412658-167412667 chr6:167412826-167412840 chr6:167412611-167412625
43	PAX5	chr6:167412640-167412982	GM12878	blood:	n/a	chr6:167412826-167412835
44	SP4	chr6:167412505-167413077	H1-hESC	embryonic stem cell:	n/a	chr6:167412654-167412670 chr6:167412620-167412636 chr6:167412656-167412672 chr6:167412791-167412807
45	SIN3A	chr6:167411180-167413573	H1-hESC	embryonic stem cell:	n/a	chr6:167412660-167412673 chr6:167412702-167412715
46	SIN3AK20	chr6:167412809-167413022	SK-N-SH	brain:	n/a	n/a
47	MYC	chr6:167412775-167412972	MCF-7	breast:	n/a	n/a
48	YY1	chr6:167412050-167413541	K562	blood:	n/a	chr6:167412650-167412661 chr6:167412658-167412667 chr6:167412097-167412106 chr6:167412826-167412840 chr6:167412611-167412625
49	POLR2A	chr6:167412352-167413526	H1-neurons	neurons:	n/a	n/a
50	RFX5	chr6:167412415-167413028	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:167368436..167372370-chr6:167409956..167415121,7	MCF-7	breast:
2	chr6:167369620..167371640-chr6:167412068..167415220,3	K562	blood:
3	chr6:167353766..167357800-chr6:167411292..167413274,3	K562	blood:
4	chr6:167368335..167372073-chr6:167409735..167414257,6	K562	blood:

Variant related genes	Relation type
FGFR1OP	TF binding region
MIR3939	TF binding region
ENSG00000227598	TF binding region
ENSG00000249141	Chromatin interaction
ENSG00000026297	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11557915	1.00[AMR][1000 genomes]
rs16899761	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16899805	1.00[AMR][1000 genomes]
rs16899816	1.00[AMR][1000 genomes]
rs16899817	1.00[AMR][1000 genomes]
rs2345567	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6456145	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6900132	1.00[AMR][1000 genomes]
rs6901171	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6921037	1.00[AMR][1000 genomes]
rs6926667	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6928981	1.00[AMR][1000 genomes]
rs6935539	1.00[AMR][1000 genomes]
rs7750975	1.00[AMR][1000 genomes]
rs7754877	0.84[AFR][1000 genomes]
rs7759776	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7762128	1.00[AMR][1000 genomes]
rs911634	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
5	nsv482507	chr6:167282376-167474915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
8	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
10	esv3420572	chr6:167409162-167413360	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 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	chr6:167411000-167413800	Active TSS	Fetal Brain Female	brain
2	chr6:167411000-167414000	Active TSS	Hela-S3	cervix
3	chr6:167411200-167413600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:167411200-167413600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:167411200-167413800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:167411200-167413800	Active TSS	HSMMtube	muscle
7	chr6:167411200-167414000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:167411200-167414200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:167411400-167413000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:167411400-167413400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:167411400-167413400	Active TSS	Colon Smooth Muscle	Colon
12	chr6:167411400-167413400	Active TSS	HUVEC	blood vessel
13	chr6:167411400-167413600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr6:167411400-167413600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:167411400-167413600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:167411400-167413600	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr6:167411400-167413600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:167411400-167413600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:167411400-167413600	Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr6:167411400-167413600	Active TSS	Muscle Satellite Cultured Cells	--
21	chr6:167411400-167413600	Active TSS	Aorta	Aorta
22	chr6:167411400-167413600	Active TSS	Brain Substantia Nigra	brain
23	chr6:167411400-167413600	Active TSS	Fetal Kidney	kidney
24	chr6:167411400-167413600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr6:167411400-167413600	Active TSS	Fetal Stomach	stomach
26	chr6:167411400-167413600	Active TSS	Left Ventricle	heart
27	chr6:167411400-167413600	Active TSS	Lung	lung
28	chr6:167411400-167413600	Active TSS	Ovary	ovary
29	chr6:167411400-167413600	Active TSS	Right Ventricle	heart
30	chr6:167411400-167413600	Active TSS	Small Intestine	intestine
31	chr6:167411400-167413600	Active TSS	Osteobl	bone
32	chr6:167411400-167413800	Active TSS	H9 Cell Line	embryonic stem cell
33	chr6:167411400-167413800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:167411400-167413800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:167411400-167413800	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr6:167411400-167413800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:167411400-167413800	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr6:167411400-167413800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:167411400-167413800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:167411400-167413800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:167411400-167413800	Active TSS	Brain Cingulate Gyrus	brain
42	chr6:167411400-167413800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:167411400-167413800	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr6:167411400-167413800	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr6:167411400-167413800	Active TSS	Rectal Smooth Muscle	rectum
46	chr6:167411400-167413800	Active TSS	Stomach Mucosa	stomach
47	chr6:167411400-167413800	Active TSS	HMEC	breast
48	chr6:167411400-167413800	Active TSS	NHDF-Ad	bronchial
49	chr6:167411400-167413800	Active TSS	NHEK	skin
50	chr6:167411400-167414000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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