Variant report

Variant	rs7809463
Chromosome Location	chr7:2799542-2799543
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	USF1	chr7:2799473-2799978	A549	lung:	n/a	chr7:2799603-2799624
2	TCF7L2	chr7:2799411-2800583	PANC-1	pancreas:	n/a	chr7:2800034-2800048 chr7:2799527-2799534
3	USF1	chr7:2799450-2799762	SK-N-SH_RA	brain:	n/a	chr7:2799603-2799624
4	MAX	chr7:2799408-2800718	A549	lung:	n/a	chr7:2799609-2799618 chr7:2799768-2799777
5	CTCF	chr7:2799091-2801195	SK-N-SH	brain:	n/a	chr7:2799932-2799940 chr7:2800947-2800960 chr7:2800945-2800963 chr7:2799554-2799567
6	TCF7L2	chr7:2799542-2800460	Hela-S3	cervix:	n/a	chr7:2800034-2800048
7	USF1	chr7:2799455-2799846	SK-N-SH_RA	brain:	n/a	chr7:2799603-2799624
8	MAX	chr7:2799537-2800659	A549	lung:	n/a	chr7:2799609-2799618 chr7:2799768-2799777
9	USF2	chr7:2799532-2800413	Hela-S3	cervix:	n/a	chr7:2799603-2799624
10	MAX	chr7:2799445-2800054	K562	blood:	n/a	chr7:2799609-2799618 chr7:2799768-2799777
11	USF1	chr7:2799416-2799988	A549	lung:	n/a	chr7:2799603-2799624
12	TCF12	chr7:2799392-2800672	A549	lung:	n/a	chr7:2800573-2800583 chr7:2799557-2799567 chr7:2799515-2799522
13	USF1	chr7:2799537-2799955	A549	lung:	n/a	chr7:2799603-2799624
14	RAD21	chr7:2799243-2801814	SK-N-SH	brain:	n/a	chr7:2799554-2799564 chr7:2799556-2799570
15	USF1	chr7:2799531-2799855	HepG2	liver:	n/a	chr7:2799603-2799624
16	CTCF	chr7:2799540-2799690	BE2_C	brain:	n/a	chr7:2799554-2799567
17	USF1	chr7:2799404-2799889	A549	lung:	n/a	chr7:2799603-2799624
18	USF1	chr7:2799477-2799895	HepG2	liver:	n/a	chr7:2799603-2799624

No.	Distal block	Cell Line	Cell type
1	chr7:2791509..2794960-chr7:2795693..2799845,4	MCF-7	breast:
2	chr7:2755108..2759929-chr7:2796424..2799629,5	K562	blood:
3	chr7:2726208..2729496-chr7:2795829..2800431,6	MCF-7	breast:
4	chr7:2796509..2799619-chr7:2800643..2805239,7	K562	blood:
5	chr7:2793193..2795230-chr7:2796231..2799768,5	K562	blood:
6	chr7:2797400..2800902-chr7:2803018..2805102,3	MCF-7	breast:

Variant related genes	Relation type
AMZ1	TF binding region
ENSG00000146535	Chromatin interaction
ENSG00000174945	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6944195	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs6949447	0.94[AFR][1000 genomes]
rs7783796	1.00[YRI][hapmap]

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	nsv1029250	chr7:2722737-2881021	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv538652	chr7:2722737-2881021	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1024023	chr7:2726210-2829581	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv538653	chr7:2726210-2829581	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription 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 target site	30 gene(s)	inside rSNPs	diseases
6	nsv1032282	chr7:2789555-2820774	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2775400-2801200	Weak transcription	Primary T cells from cord blood	blood
2	chr7:2789200-2831600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr7:2790000-2830400	Weak transcription	Aorta	Aorta
4	chr7:2790400-2799800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:2791200-2803400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:2791400-2800200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:2796400-2800600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr7:2796400-2801000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr7:2796400-2801600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr7:2796400-2803200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr7:2796400-2804000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr7:2796600-2799800	Enhancers	Fetal Muscle Trunk	muscle
13	chr7:2796800-2799600	Enhancers	Fetal Stomach	stomach
14	chr7:2796800-2799800	Enhancers	Fetal Heart	heart
15	chr7:2796800-2801000	Enhancers	Fetal Intestine Large	intestine
16	chr7:2796800-2802000	Enhancers	Adipose Nuclei	Adipose
17	chr7:2796800-2803600	Weak transcription	Primary B cells from cord blood	blood
18	chr7:2796800-2804400	Enhancers	Fetal Muscle Leg	muscle
19	chr7:2797000-2799800	Enhancers	Brain Angular Gyrus	brain
20	chr7:2797000-2799800	Enhancers	Brain Substantia Nigra	brain
21	chr7:2797000-2800200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr7:2797000-2800800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr7:2797000-2800800	Enhancers	Primary hematopoietic stem cells	blood
24	chr7:2797000-2801000	Enhancers	Brain Germinal Matrix	brain
25	chr7:2797000-2801000	Enhancers	Fetal Thymus	thymus
26	chr7:2797000-2801800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:2797000-2803200	Enhancers	Right Ventricle	heart
28	chr7:2797000-2803800	Enhancers	Brain Cingulate Gyrus	brain
29	chr7:2797000-2805400	Enhancers	Placenta	Placenta
30	chr7:2797200-2799600	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr7:2797200-2801000	Enhancers	Small Intestine	intestine
32	chr7:2797400-2799600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr7:2797400-2801200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:2797600-2800800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr7:2797600-2831200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr7:2797800-2800400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr7:2797800-2801000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:2798000-2799600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:2798000-2799800	Weak transcription	Fetal Lung	lung
40	chr7:2798000-2800000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:2798000-2800200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:2798000-2800200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr7:2798000-2801200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:2798000-2801400	Enhancers	Psoas Muscle	Psoas
45	chr7:2798000-2803600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr7:2798000-2827400	Weak transcription	Thymus	Thymus
47	chr7:2798200-2799600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:2798200-2799600	Enhancers	Brain Anterior Caudate	brain
49	chr7:2798200-2799800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr7:2798200-2799800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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