Variant report

Variant	rs73386651
Chromosome Location	chr6:27858040-27858041
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:205)
CpG islands
(count:0)
Chromatin interactive
region (count:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:205 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr6:27857501-27858762	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:27857265-27863609	GM12891	blood:	n/a	n/a
3	POLR2A	chr6:27857621-27858782	NB4	blood:	n/a	n/a
4	POLR2A	chr6:27857560-27858891	GM12878	blood:	n/a	n/a
5	POLR2A	chr6:27857380-27858870	GM12892	blood:	n/a	n/a
6	IKZF1	chr6:27857387-27858219	GM12878	blood:	n/a	n/a
7	TCF7L2	chr6:27857697-27859049	HCT-116	colon:	n/a	n/a
8	POLR2A	chr6:27857297-27858919	GM19099	blood:	n/a	n/a
9	POLR2A	chr6:27856971-27863786	K562	blood:	n/a	n/a
10	BCLAF1	chr6:27856983-27867279	K562	blood:	n/a	chr6:27863647-27863660 chr6:27863652-27863661 chr6:27862695-27862704 chr6:27857910-27857919
11	CREB1	chr6:27857839-27860651	K562	blood:	n/a	n/a
12	CBX3	chr6:27857862-27858727	K562	blood:	n/a	n/a
13	ATF2	chr6:27857534-27858764	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr6:27857577-27858710	A549	lung:	n/a	n/a
15	POLR2A	chr6:27856821-27873085	K562	blood:	n/a	n/a
16	POLR2A	chr6:27857312-27858906	GM18951	blood:	n/a	n/a
17	PML	chr6:27857682-27858835	MCF-7	breast:	n/a	n/a
18	SIN3AK20	chr6:27857655-27858258	A549	lung:	n/a	n/a
19	POLR2A	chr6:27857203-27859037	MCF-7	breast:	n/a	n/a
20	FOXM1	chr6:27857575-27858902	GM12878	blood:	n/a	n/a
21	NR2F2	chr6:27857471-27858563	K562	blood:	n/a	n/a
22	E2F6	chr6:27857884-27858784	A549	lung:	n/a	n/a
23	FOSL2	chr6:27857710-27858230	A549	lung:	n/a	n/a
24	REST	chr6:27857782-27858707	A549	lung:	n/a	chr6:27858599-27858617
25	EP300	chr6:27857543-27858759	A549	lung:	n/a	n/a
26	CBX3	chr6:27857539-27859119	K562	blood:	n/a	n/a
27	POLR2A	chr6:27857317-27858907	SK-N-SH	brain:	n/a	n/a
28	SP1	chr6:27857340-27858974	A549	lung:	n/a	n/a
29	RELA	chr6:27857573-27859227	GM18505	blood:	n/a	n/a
30	POU2F2	chr6:27857651-27858757	GM12878	blood:	n/a	n/a
31	MAX	chr6:27858000-27858894	K562	blood:	n/a	n/a
32	POLR2A	chr6:27856943-27864721	H1-hESC	embryonic stem cell:	n/a	n/a
33	TRIM28	chr6:27857632-27858808	K562	blood:	n/a	n/a
34	POLR2A	chr6:27857373-27858893	GM12892	blood:	n/a	n/a
35	JUND	chr6:27857549-27858716	H1-hESC	embryonic stem cell:	n/a	n/a
36	POU2F2	chr6:27857573-27858755	GM12878	blood:	n/a	n/a
37	ATF2	chr6:27857228-27863693	H1-hESC	embryonic stem cell:	n/a	chr6:27863037-27863048
38	TAF1	chr6:27857572-27859099	H1-hESC	embryonic stem cell:	n/a	n/a
39	TEAD4	chr6:27857951-27858736	K562	blood:	n/a	n/a
40	POLR2A	chr6:27856997-27864751	H1-hESC	embryonic stem cell:	n/a	n/a
41	EP300	chr6:27857535-27858919	SK-N-SH	brain:	n/a	n/a
42	CHD2	chr6:27857791-27858760	GM12878	blood:	n/a	n/a
43	TAF7	chr6:27856262-27863702	H1-hESC	embryonic stem cell:	n/a	n/a
44	SIN3AK20	chr6:27857306-27859047	MCF-7	breast:	n/a	n/a
45	MAX	chr6:27858038-27858663	K562	blood:	n/a	n/a
46	ATF2	chr6:27857674-27858878	GM12878	blood:	n/a	n/a
47	POLR2A	chr6:27857557-27858838	HUVEC	blood vessel:	n/a	n/a
48	HEY1	chr6:27857544-27863607	K562	blood:	n/a	chr6:27863039-27863048 chr6:27863037-27863046
49	CHD2	chr6:27857359-27861593	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr6:27857279-27863600	K562	blood:	n/a	n/a

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26199305..26201035-chr6:27856541..27859187,2	K562	blood:
2	chr6:27857706..27858466-chr8:134309427..134310192,2	HCT-116	colon:
3	chr6:27856359..27859269-chr6:28891133..28894008,2	MCF-7	breast:
4	chr6:27857291..27858044-chr9:131709484..131710185,2	HCT-116	colon:
5	chr10:18939570..18941733-chr6:27856904..27858914,2	MCF-7	breast:
6	chr6:27655564..27658376-chr6:27856463..27858379,2	K562	blood:
7	chr17:57923153..57925660-chr6:27857179..27859477,2	MCF-7	breast:
8	chr6:27857994..27864853-chr6:28300493..28305532,13	K562	blood:
9	chr17:57917479..57925634-chr6:27855402..27862109,9	MCF-7	breast:
10	chr6:27098129..27102708-chr6:27857691..27863156,15	MCF-7	breast:
11	chr1:11967428..11969173-chr6:27857961..27860830,2	K562	blood:
12	chr6:26154955..26159424-chr6:27857638..27862895,13	MCF-7	breast:
13	chr6:27099529..27101818-chr6:27857109..27860986,3	MCF-7	breast:
14	chr16:2203268..2206220-chr6:27857533..27859088,2	K562	blood:
15	chr6:27105394..27120060-chr6:27855994..27866393,42	K562	blood:
16	chr6:26211090..26218818-chr6:27857037..27863909,13	K562	blood:
17	chr6:26270273..26274919-chr6:27857077..27861037,6	MCF-7	breast:
18	chr6:26122096..26124580-chr6:27856723..27859571,3	K562	blood:
19	chr6:27857150..27860070-chr6:28191777..28193436,2	K562	blood:
20	chr6:27857690..27865363-chr6:28300493..28306970,14	K562	blood:
21	chr6:27096288..27105112-chr6:27855525..27865082,32	K562	blood:
22	chr6:27857955..27860857-chr6:28129284..28131805,2	K562	blood:
23	chr6:27091519..27093648-chr6:27856699..27858559,2	K562	blood:
24	chr6:26019933..26022464-chr6:27857272..27860270,2	MCF-7	breast:
25	chr6:27109893..27116877-chr6:27855936..27864238,12	MCF-7	breast:
26	chr6:27857864..27860590-chr6:28365932..28368425,2	K562	blood:
27	chr6:27094943..27118570-chr6:27854106..27868030,101	K562	blood:
28	chr6:26025653..26028340-chr6:27857674..27861144,4	MCF-7	breast:
29	chr6:27857335..27860257-chr7:6521676..6523586,2	MCF-7	breast:
30	chr6:26024607..26035097-chr6:27857610..27864739,17	K562	blood:
31	chr1:153939194..153941936-chr6:27857839..27860043,2	MCF-7	breast:
32	chr6:27857264..27863272-chr6:28318615..28325449,9	K562	blood:
33	chr6:27856204..27858764-chr6:28323949..28325832,2	K562	blood:
34	chr6:26156518..26158542-chr6:27857561..27859684,2	K562	blood:
35	chr6:27857129..27859629-chr6:28105020..28108475,3	K562	blood:

No data

Variant related genes	Relation type
HIST1H2BO	TF binding region
ENSG00000226314	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000256018	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000131653	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000095319	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000204713	Chromatin interaction
ENSG00000206630	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000143578	Chromatin interaction
ENSG00000241058	Chromatin interaction
ENSG00000158691	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000143570	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000137185	Chromatin interaction
ENSG00000260260	Chromatin interaction
ENSG00000218690	Chromatin interaction
ENSG00000104419	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000175283	Chromatin interaction
ENSG00000269781	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000269293	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000168242	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000158373	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11962485	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11970451	0.85[AMR][1000 genomes]
rs57414310	0.86[AFR][1000 genomes]
rs6924324	1.00[AMR][1000 genomes]
rs73392695	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392698	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73394721	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394750	0.81[AFR][1000 genomes]
rs73396504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73398516	1.00[AMR][1000 genomes]
rs7743306	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
3	nsv1017440	chr6:27734824-27864277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	370 gene(s)	inside rSNPs	diseases
4	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
5	nsv883512	chr6:27748631-27969004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
6	nsv601208	chr6:27810626-27969004	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	237 gene(s)	inside rSNPs	diseases
7	nsv601209	chr6:27849676-27869321	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	194 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27857000-27858400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:27857000-27858600	Flanking Active TSS	Dnd41	blood
3	chr6:27857000-27863400	Active TSS	Thymus	Thymus
4	chr6:27857000-27863800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:27857200-27858200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:27857200-27858200	Enhancers	Primary T cells from cord blood	blood
7	chr6:27857200-27858200	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr6:27857200-27858400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:27857200-27858400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr6:27857200-27858400	Flanking Active TSS	GM12878-XiMat	blood
11	chr6:27857200-27863800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:27857200-27864000	Active TSS	H9 Cell Line	embryonic stem cell
13	chr6:27857200-27864000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:27857200-27864000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:27857400-27858400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:27857400-27858400	Flanking Active TSS	K562	blood
17	chr6:27857400-27858600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:27857400-27858600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:27857400-27858600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:27857400-27858600	Flanking Active TSS	Fetal Thymus	thymus
21	chr6:27857400-27859200	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr6:27857400-27859200	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr6:27857400-27860000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:27857400-27864000	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr6:27857400-27864400	Active TSS	H1 Cell Line	embryonic stem cell
26	chr6:27857400-27864400	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr6:27857600-27858200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:27857600-27858200	Flanking Active TSS	Fetal Kidney	kidney
29	chr6:27857600-27858200	Active TSS	Fetal Muscle Trunk	muscle
30	chr6:27857600-27858200	Flanking Active TSS	NHLF	lung
31	chr6:27857600-27858400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr6:27857600-27858400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:27857600-27858400	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr6:27857600-27858400	Flanking Active TSS	Fetal Stomach	stomach
35	chr6:27857600-27858400	Flanking Active TSS	NH-A	brain
36	chr6:27857600-27858400	Flanking Active TSS	NHDF-Ad	bronchial
37	chr6:27857600-27858600	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr6:27857600-27858600	Flanking Active TSS	HMEC	breast
39	chr6:27857600-27858600	Flanking Active TSS	HUVEC	blood vessel
40	chr6:27857600-27859600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr6:27857600-27861000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:27857600-27864000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:27857800-27858200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:27857800-27858200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr6:27857800-27858200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr6:27857800-27858200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
47	chr6:27857800-27858200	Flanking Active TSS	Fetal Brain Male	brain
48	chr6:27857800-27858200	Flanking Active TSS	Fetal Intestine Large	intestine
49	chr6:27857800-27858200	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr6:27857800-27858200	Enhancers	Small Intestine	intestine

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