Variant report

Variant	rs4987023
Chromosome Location	chr6:160113693-160113694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:164)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:164 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr6:160113395-160114881	K562	blood:	n/a	chr6:160114654-160114664 chr6:160114023-160114033 chr6:160114623-160114632
2	TAF1	chr6:160113582-160114988	HepG2	liver:	n/a	n/a
3	MYC	chr6:160113551-160113986	A549	lung:	n/a	n/a
4	POLR2A	chr6:160113518-160114970	GM12892	blood:	n/a	n/a
5	MAZ	chr6:160113691-160114993	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr6:160113569-160114948	HEK293	kidney:	n/a	n/a
7	RFX5	chr6:160113469-160113891	Hela-S3	cervix:	n/a	n/a
8	RUNX3	chr6:160113579-160115168	GM12878	blood:	n/a	n/a
9	POLR2A	chr6:160113625-160115005	GM18951	blood:	n/a	n/a
10	MAZ	chr6:160113578-160113886	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:160113438-160115505	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr6:160113501-160115015	K562	blood:	n/a	n/a
13	SIN3AK20	chr6:160113567-160113975	SK-N-SH	brain:	n/a	n/a
14	SMARCB1	chr6:160112911-160115703	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr6:160113435-160115068	K562	blood:	n/a	n/a
16	MAX	chr6:160113539-160115542	HepG2	liver:	n/a	n/a
17	ETS1	chr6:160113598-160114797	K562	blood:	n/a	chr6:160114687-160114698
18	POLR2A	chr6:160113587-160114938	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:160113565-160114891	GM12878	blood:	n/a	n/a
20	MAX	chr6:160112897-160115010	K562	blood:	n/a	n/a
21	MAX	chr6:160113433-160114942	A549	lung:	n/a	n/a
22	POLR2A	chr6:160101974-160115720	MCF10A-Er-Src	breast:	n/a	n/a
23	MAX	chr6:160113425-160115031	ECC-1	luminal epithelium:	n/a	n/a
24	MAX	chr6:160113526-160115057	MCF-7	breast:	n/a	n/a
25	CTCF	chr6:160113640-160113790	SAEC	small airway:	n/a	n/a
26	POLR2A	chr6:160097895-160115824	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr6:160113579-160114998	ECC-1	luminal epithelium:	n/a	n/a
28	STAT5A	chr6:160113353-160113863	GM12878	blood:	n/a	n/a
29	BHLHE40	chr6:160113562-160115524	HepG2	liver:	n/a	chr6:160114320-160114336 chr6:160114649-160114665 chr6:160114680-160114696 chr6:160114018-160114034 chr6:160114024-160114040 chr6:160114609-160114625
30	MYC	chr6:160113336-160113779	MCF10A-Er-Src	breast:	n/a	n/a
31	SIN3A	chr6:160113679-160114321	GM12878	blood:	n/a	n/a
32	SIN3AK20	chr6:160113351-160114914	K562	blood:	n/a	n/a
33	ZNF143	chr6:160113487-160114593	K562	blood:	n/a	chr6:160113984-160114002
34	MYC	chr6:160113347-160114979	K562	blood:	n/a	n/a
35	MAX	chr6:160113412-160113913	H1-hESC	embryonic stem cell:	n/a	n/a
36	JUND	chr6:160113253-160115766	SK-N-SH	brain:	n/a	chr6:160115095-160115105 chr6:160114688-160114697 chr6:160114429-160114438 chr6:160115045-160115057
37	HEY1	chr6:160113244-160115043	K562	blood:	n/a	chr6:160114023-160114038
38	ELF1	chr6:160113518-160115003	GM12878	blood:	n/a	chr6:160114681-160114690
39	TCF7L2	chr6:160113621-160115424	PANC-1	pancreas:	n/a	n/a
40	MXI1	chr6:160113452-160115536	Hela-S3	cervix:	n/a	n/a
41	SMC3	chr6:160113500-160113699	K562	blood:	n/a	n/a
42	POLR2A	chr6:160113501-160115040	H1-neurons	neurons:	n/a	n/a
43	MXI1	chr6:160113363-160113836	K562	blood:	n/a	n/a
44	POLR2A	chr6:160113559-160113994	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr6:160113623-160113978	H1-hESC	embryonic stem cell:	n/a	n/a
46	TAF1	chr6:160113572-160115008	ECC-1	luminal epithelium:	n/a	n/a
47	MAX	chr6:160113277-160115459	NB4	blood:	n/a	n/a
48	POLR2A	chr6:160106563-160115731	MCF10A-Er-Src	breast:	n/a	n/a
49	CHD1	chr6:160113530-160115112	GM12878	blood:	n/a	n/a
50	ZNF263	chr6:160112954-160114954	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:160112569..160116533-chr6:160178411..160185093,17	K562	blood:
2	chr6:160112842..160115376-chr6:160389421..160392162,4	K562	blood:
3	chr6:160109393..160116278-chr6:160208428..160213435,15	MCF-7	breast:
4	chr6:160112398..160115958-chr6:160181154..160184645,14	K562	blood:
5	chr6:160112694..160116036-chr6:160134049..160138067,4	MCF-7	breast:
6	chr6:160107033..160110605-chr6:160113317..160116461,4	MCF-7	breast:
7	chr6:160111614..160116073-chr6:160199119..160206139,10	K562	blood:
8	chr6:160112566..160116180-chr6:160388864..160392588,3	K562	blood:
9	chr6:160109965..160117594-chr6:160208562..160214358,24	K562	blood:
10	chr6:160111487..160116391-chr6:160146710..160151187,13	MCF-7	breast:
11	chr6:160108837..160112188-chr6:160112764..160114625,5	MCF-7	breast:
12	chr6:160111368..160115716-chr6:160203932..160208164,7	K562	blood:
13	chr6:160112459..160115914-chr6:160139844..160141816,5	MCF-7	breast:
14	chr6:160113465..160115944-chr6:160146380..160149547,5	MCF-7	breast:
15	chr6:160111087..160118798-chr6:160206664..160214845,21	K562	blood:
16	chr6:160106709..160118403-chr6:160141954..160155621,64	K562	blood:
17	chr6:160112296..160113848-chr6:160210019..160211863,2	MCF-7	breast:
18	chr6:160113025..160114990-chr6:160181939..160185045,3	MCF-7	breast:
19	chr6:160112101..160114486-chr6:160199725..160201973,2	MCF-7	breast:
20	chr6:160110334..160118720-chr6:160142634..160154724,57	K562	blood:
21	chr6:160112645..160116629-chr6:160179743..160184207,5	MCF-7	breast:
22	chr6:160111048..160116558-chr6:160134550..160141734,11	K562	blood:
23	chr6:160111921..160120222-chr6:160131927..160141727,18	K562	blood:
24	chr6:160111457..160116867-chr6:160162395..160167300,6	K562	blood:
25	chr3:101568288..101569152-chr6:160113671..160114315,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
SOD2	TF binding region
ENSG00000120437	Chromatin interaction
ENSG00000144802	Chromatin interaction
ENSG00000112110	Chromatin interaction
ENSG00000220305	Chromatin interaction
ENSG00000120438	Chromatin interaction
ENSG00000197081	Chromatin interaction
ENSG00000207392	Chromatin interaction
ENSG00000206910	Chromatin interaction
ENSG00000112096	Chromatin interaction
ENSG00000146457	Chromatin interaction
ENSG00000251988	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12194757	1.00[CHB][hapmap]
rs5746096	1.00[CHB][hapmap]
rs5746129	1.00[CHB][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758088	chr6:160003831-160215151	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	esv2759483	chr6:160003831-160215151	Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv886806	chr6:160091560-160131943	Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 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	chr6:160111400-160113800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:160111400-160115400	Active TSS	Psoas Muscle	Psoas
3	chr6:160111800-160114800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr6:160112000-160113800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:160112000-160114200	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr6:160112000-160115000	Active TSS	Fetal Intestine Large	intestine
7	chr6:160112200-160113800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:160112200-160113800	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr6:160112200-160113800	Flanking Active TSS	Rectal Smooth Muscle	rectum
10	chr6:160112200-160113800	Flanking Active TSS	HMEC	breast
11	chr6:160112200-160113800	Flanking Active TSS	HUVEC	blood vessel
12	chr6:160112200-160114000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr6:160112200-160114000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr6:160112200-160115000	Active TSS	Ovary	ovary
15	chr6:160112200-160115200	Active TSS	Lung	lung
16	chr6:160112400-160115000	Active TSS	Hela-S3	cervix
17	chr6:160112600-160113800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:160112600-160113800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr6:160112600-160113800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:160112600-160113800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:160112600-160114200	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr6:160112600-160114800	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr6:160112600-160114800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:160112600-160115000	Active TSS	Aorta	Aorta
25	chr6:160112600-160115400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr6:160112600-160115400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr6:160112800-160113800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:160112800-160113800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr6:160112800-160113800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr6:160112800-160113800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:160112800-160113800	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr6:160112800-160113800	Flanking Active TSS	Fetal Brain Female	brain
33	chr6:160112800-160113800	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr6:160112800-160113800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr6:160112800-160113800	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr6:160112800-160113800	Flanking Active TSS	NH-A	brain
37	chr6:160112800-160114000	Flanking Active TSS	Placenta	Placenta
38	chr6:160112800-160115000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:160112800-160115000	Bivalent/Poised TSS	HepG2	liver
40	chr6:160112800-160115200	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr6:160112800-160115200	Active TSS	Small Intestine	intestine
42	chr6:160113000-160113800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr6:160113000-160113800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:160113000-160113800	Flanking Active TSS	Fetal Brain Male	brain
45	chr6:160113000-160113800	Flanking Active TSS	Fetal Muscle Trunk	muscle
46	chr6:160113000-160113800	Flanking Active TSS	Fetal Thymus	thymus
47	chr6:160113000-160113800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
48	chr6:160113000-160113800	Flanking Active TSS	Thymus	Thymus
49	chr6:160113000-160114000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
50	chr6:160113000-160114200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell

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