Variant report

Variant	rs73395344
Chromosome Location	chr6:26286634-26286635
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:340)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:340 , 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	RCOR1	chr6:26285438-26286926	HepG2	liver:	n/a	n/a
2	ATF2	chr6:26284679-26286980	GM12878	blood:	n/a	n/a
3	TAF1	chr6:26285238-26286790	K562	blood:	n/a	n/a
4	TCF12	chr6:26286386-26287000	ECC-1	luminal epithelium:	n/a	n/a
5	CHD2	chr6:26286500-26286913	GM12878	blood:	n/a	n/a
6	JUND	chr6:26284991-26286806	Hela-S3	cervix:	n/a	chr6:26285885-26285894
7	BCLAF1	chr6:26286466-26286958	GM12878	blood:	n/a	n/a
8	GATA2	chr6:26286530-26286994	K562	blood:	n/a	chr6:26286867-26286878
9	TEAD4	chr6:26286448-26286966	A549	lung:	n/a	n/a
10	POLR2A	chr6:26283878-26286821	ECC-1	luminal epithelium:	n/a	n/a
11	NFIC	chr6:26284857-26286969	GM12878	blood:	n/a	n/a
12	BHLHE40	chr6:26284805-26286930	K562	blood:	n/a	n/a
13	MYC	chr6:26285098-26286895	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr6:26286573-26286889	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:26286604-26286790	A549	lung:	n/a	n/a
16	POLR2A	chr6:26284059-26286985	SK-N-SH	brain:	n/a	n/a
17	SIN3AK20	chr6:26286622-26286831	HepG2	liver:	n/a	n/a
18	RXRA	chr6:26286501-26286955	GM12878	blood:	n/a	n/a
19	CBX3	chr6:26286506-26287202	K562	blood:	n/a	n/a
20	ATF2	chr6:26286450-26286957	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR3G	chr6:26286542-26286930	GM12878	blood:	n/a	n/a
22	REST	chr6:26284969-26287157	H1-neurons	neurons:	n/a	n/a
23	MAX	chr6:26284839-26287003	HepG2	liver:	n/a	n/a
24	TRIM28	chr6:26284500-26287080	K562	blood:	n/a	n/a
25	POLR2A	chr6:26283958-26286993	SK-N-MC	brain:	n/a	n/a
26	JUND	chr6:26284369-26287104	SK-N-SH	brain:	n/a	chr6:26285885-26285894
27	JUN	chr6:26285475-26286978	K562	blood:	n/a	chr6:26285885-26285894 chr6:26285881-26285894
28	POU2F2	chr6:26286616-26286834	GM12878	blood:	n/a	n/a
29	POLR2A	chr6:26284897-26286806	NB4	blood:	n/a	n/a
30	POLR2A	chr6:26286552-26286810	SK-N-SH	brain:	n/a	n/a
31	GATA1	chr6:26284702-26286830	PBDE	blood:	n/a	chr6:26286024-26286040 chr6:26285118-26285129 chr6:26286021-26286042
32	POLR2A	chr6:26286501-26286809	HCT-116	colon:	n/a	n/a
33	ELF1	chr6:26286551-26286951	K562	blood:	n/a	n/a
34	EBF1	chr6:26286623-26286911	GM12878	blood:	n/a	n/a
35	TBL1XR1	chr6:26286506-26287020	K562	blood:	n/a	n/a
36	MYC	chr6:26285358-26286900	Hela-S3	cervix:	n/a	n/a
37	KAP1	chr6:26286549-26286949	U2OS	brain:	n/a	n/a
38	TAF1	chr6:26286632-26286861	Hela-S3	cervix:	n/a	n/a
39	ATF3	chr6:26285280-26287145	A549	lung:	n/a	chr6:26285883-26285893 chr6:26285883-26285896 chr6:26285886-26285896 chr6:26285884-26285895 chr6:26285885-26285893 chr6:26285882-26285897 chr6:26285882-26285893 chr6:26285883-26285894 chr6:26285886-26285893 chr6:26285874-26285894 chr6:26285886-26285897 chr6:26285883-26285896 chr6:26285886-26285894 chr6:26285884-26285895
40	MYC	chr6:26285186-26286883	K562	blood:	n/a	n/a
41	MXI1	chr6:26286556-26286889	K562	blood:	n/a	n/a
42	JUN	chr6:26283102-26287746	K562	blood:	n/a	chr6:26285885-26285894 chr6:26285881-26285894
43	ATF3	chr6:26286441-26287047	HCT-116	colon:	n/a	n/a
44	TEAD4	chr6:26286380-26287112	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr6:26284035-26286902	GM12878	blood:	n/a	n/a
46	TEAD4	chr6:26286452-26287045	ECC-1	luminal epithelium:	n/a	n/a
47	ZNF217	chr6:26286486-26286932	MCF-7	breast:	n/a	n/a
48	TBP	chr6:26286492-26286948	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr6:26286564-26286827	U87	brain:	n/a	n/a
50	POLR2A	chr6:26286500-26286881	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:26285383..26287322-chr6:26595667..26597252,2	K562	blood:
2	chr6:26285546..26288000-chr6:26593708..26598025,4	K562	blood:
3	chr22:37594612..37596195-chr6:26285298..26287282,2	MCF-7	breast:
4	chr6:26284169..26287182-chr6:27098843..27102282,9	MCF-7	breast:
5	chr6:26282374..26290542-chr6:27772727..27779446,9	MCF-7	breast:
6	chr6:26284926..26288844-chr6:27112544..27117256,7	MCF-7	breast:
7	chr6:26283553..26288411-chr6:27099109..27103890,9	K562	blood:
8	chr6:26283501..26289776-chr6:27108470..27116413,14	K562	blood:
9	chr6:26285889..26287811-chr6:26576369..26578960,2	K562	blood:
10	chr17:50443509..50445009-chr6:26285795..26287525,2	K562	blood:
11	chr6:26286019..26289232-chr6:26328153..26331757,3	MCF-7	breast:
12	chr6:26286218..26286895-chr9:75747060..75747788,2	Hela-S3	cervix:
13	chr6:26286125..26287830-chr6:27780556..27782142,2	K562	blood:
14	chr6:26285002..26288145-chr6:27106372..27109970,3	K562	blood:
15	chr6:26284595..26286782-chr6:26439423..26441341,2	K562	blood:
16	chr6:26284431..26286748-chr6:26538592..26541230,2	K562	blood:
17	chr6:26054309..26057181-chr6:26284749..26286697,3	MCF-7	breast:
18	chr6:26284256..26286912-chr6:27114805..27118000,3	K562	blood:
19	chr17:41380482..41382083-chr6:26284329..26287201,2	MCF-7	breast:
20	chr6:26283553..26287733-chr6:27097522..27103890,12	K562	blood:
21	chr6:26285002..26287189-chr6:27105491..27107872,2	K562	blood:
22	chr6:26280754..26288136-chr6:27109918..27116629,16	MCF-7	breast:
23	chr6:26284286..26286997-chr6:26519588..26522057,2	K562	blood:
24	chr6:26285137..26286889-chr6:27219184..27221854,2	MCF-7	breast:
25	chr6:26020607..26022712-chr6:26286327..26288134,2	MCF-7	breast:

No data

Variant related genes	Relation type
HIST1H4H	TF binding region
ENSG00000196747	Chromatin interaction
ENSG00000112812	Chromatin interaction
ENSG00000182952	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000236383	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000199289	Chromatin interaction
ENSG00000133466	Chromatin interaction
ENSG00000146109	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000111801	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000198366	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs58877025	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60202454	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6900192	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6900610	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6901096	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924986	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73393494	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73395352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
4	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
5	nsv428137	chr6:25987413-26351920	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1181 gene(s)	inside rSNPs	diseases
6	nsv1028232	chr6:26005449-26319756	Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1171 gene(s)	inside rSNPs	diseases
7	nsv1023457	chr6:26014014-26305407	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1170 gene(s)	inside rSNPs	diseases
8	nsv1023979	chr6:26026870-26287399	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1113 gene(s)	inside rSNPs	diseases
9	nsv1015782	chr6:26026870-26323895	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1114 gene(s)	inside rSNPs	diseases
10	nsv1018665	chr6:26026870-26352046	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1116 gene(s)	inside rSNPs	diseases
11	nsv601173	chr6:26239404-26322524	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	184 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26282800-26287200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr6:26283000-26286800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:26283400-26286800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:26283400-26286800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:26283400-26286800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr6:26283400-26287200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr6:26283400-26287200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr6:26283400-26287200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr6:26283600-26286800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:26283600-26287000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr6:26283600-26287000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:26283600-26287200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr6:26283600-26287200	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr6:26283600-26287200	Active TSS	Thymus	Thymus
15	chr6:26283800-26286800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:26283800-26286800	Active TSS	Aorta	Aorta
17	chr6:26283800-26286800	Active TSS	NHLF	lung
18	chr6:26283800-26287000	Active TSS	Fetal Intestine Large	intestine
19	chr6:26283800-26287000	Active TSS	K562	blood
20	chr6:26283800-26287200	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr6:26283800-26287200	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr6:26284000-26286800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:26284000-26286800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:26284000-26286800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:26284000-26286800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr6:26284000-26286800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:26284000-26286800	Active TSS	Brain Substantia Nigra	brain
28	chr6:26284000-26286800	Active TSS	HSMMtube	muscle
29	chr6:26284000-26287000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:26284000-26287000	Active TSS	Fetal Kidney	kidney
31	chr6:26284000-26287000	Active TSS	Fetal Lung	lung
32	chr6:26284000-26287200	Active TSS	Rectal Smooth Muscle	rectum
33	chr6:26284000-26287200	Active TSS	A549	lung
34	chr6:26284200-26286800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:26284200-26286800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:26284200-26286800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:26284200-26286800	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr6:26284200-26286800	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr6:26284200-26287000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:26284200-26287000	Active TSS	Colon Smooth Muscle	Colon
41	chr6:26284200-26287000	Active TSS	Fetal Brain Female	brain
42	chr6:26284200-26287000	Active TSS	NH-A	brain
43	chr6:26284200-26287000	Active TSS	NHDF-Ad	bronchial
44	chr6:26284200-26287200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:26284200-26287200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:26284400-26286800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr6:26284400-26286800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:26284400-26286800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:26284400-26286800	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr6:26284400-26286800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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