Variant report

Variant	rs28627810
Chromosome Location	chr7:120589402-120589403
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	MXI1	chr7:120589208-120592447	SK-N-SH	brain:	n/a	n/a
2	JUN	chr7:120588687-120592316	K562	blood:	n/a	chr7:120591810-120591819
3	PML	chr7:120589345-120591757	K562	blood:	n/a	chr7:120590313-120590321
4	TEAD4	chr7:120589232-120591777	K562	blood:	n/a	n/a
5	POLR2A	chr7:120587507-120589667	K562	blood:	n/a	n/a
6	HCFC1	chr7:120589401-120591766	Hela-S3	cervix:	n/a	n/a
7	TBL1XR1	chr7:120589344-120589685	K562	blood:	n/a	n/a
8	TBL1XR1	chr7:120589338-120589437	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:120495769..120499665-chr7:120588624..120592417,7	MCF-7	breast:
2	chr7:120587418..120589736-chr7:120968614..120970318,2	K562	blood:
3	chr7:120380461..120382564-chr7:120588648..120590998,2	K562	blood:
4	chr7:120588429..120592994-chr7:120712560..120717211,6	K562	blood:
5	chr7:120588468..120596180-chr7:120604298..120610010,9	MCF-7	breast:

Variant related genes	Relation type
ING3	TF binding region
ENSG00000184408	Chromatin interaction
ENSG00000106034	Chromatin interaction
ENSG00000002745	Chromatin interaction
ENSG00000106025	Chromatin interaction
ENSG00000071243	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10085399	1.00[AMR][1000 genomes]
rs10085545	1.00[AMR][1000 genomes]
rs10156133	1.00[AMR][1000 genomes]
rs10228463	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10231429	1.00[AMR][1000 genomes]
rs10239339	1.00[AMR][1000 genomes]
rs10241872	1.00[AMR][1000 genomes]
rs10243869	1.00[AMR][1000 genomes]
rs10256185	1.00[AMR][1000 genomes]
rs10260155	1.00[AMR][1000 genomes]
rs10269373	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10277685	1.00[AMR][1000 genomes]
rs10281679	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12531744	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12537910	1.00[AMR][1000 genomes]
rs12538483	1.00[AMR][1000 genomes]
rs12539312	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12539365	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12540028	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12540031	1.00[AMR][1000 genomes]
rs28366865	1.00[AMR][1000 genomes]
rs28545438	1.00[AMR][1000 genomes]
rs28582920	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28676720	1.00[AMR][1000 genomes]
rs28696320	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6946429	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6955429	0.80[AFR][1000 genomes]
rs6959281	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6966333	1.00[AMR][1000 genomes]
rs6970044	1.00[AMR][1000 genomes]
rs7791680	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv967472	chr7:120581340-120591647	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120585600-120589600	Weak transcription	Liver	Liver
2	chr7:120585600-120589600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:120585600-120589600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:120585600-120589600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:120585600-120589800	Weak transcription	Fetal Intestine Large	intestine
6	chr7:120586400-120589800	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:120589000-120590000	Weak transcription	Stomach Mucosa	stomach
8	chr7:120589200-120589600	Active TSS	Primary B cells from cord blood	blood
9	chr7:120589200-120590200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:120589200-120592000	Active TSS	K562	blood
11	chr7:120589400-120589600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:120589400-120589600	Enhancers	Primary T cells from cord blood	blood
13	chr7:120589400-120589600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:120589400-120589600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr7:120589400-120589600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr7:120589400-120589600	Enhancers	Brain Anterior Caudate	brain
17	chr7:120589400-120589600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr7:120589400-120589600	Enhancers	HepG2	liver
19	chr7:120589400-120589600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr7:120589400-120589800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr7:120589400-120589800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:120589400-120589800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:120589400-120589800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr7:120589400-120589800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:120589400-120589800	Enhancers	Fetal Heart	heart
26	chr7:120589400-120589800	Enhancers	Fetal Intestine Small	intestine
27	chr7:120589400-120589800	Flanking Active TSS	Dnd41	blood
28	chr7:120589400-120589800	Flanking Active TSS	GM12878-XiMat	blood
29	chr7:120589400-120589800	Flanking Active TSS	Hela-S3	cervix
30	chr7:120589400-120590000	Flanking Active TSS	HUVEC	blood vessel
31	chr7:120589400-120590200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:120589400-120591400	Active TSS	Primary hematopoietic stem cells	blood
33	chr7:120589400-120591400	Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr7:120589400-120592000	Active TSS	Fetal Thymus	thymus
35	chr7:120589400-120592400	Active TSS	A549	lung

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