Variant report

Variant	rs10235112
Chromosome Location	chr7:87563383-87563384
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	ETS1	chr7:87563180-87563769	GM12878	blood:	n/a	chr7:87563395-87563408 chr7:87563441-87563452 chr7:87563439-87563450 chr7:87563394-87563407 chr7:87563573-87563584
2	YY1	chr7:87563195-87563835	ECC-1	luminal epithelium:	n/a	chr7:87563724-87563733 chr7:87563681-87563690
3	RELA	chr7:87563068-87564188	GM15510	blood:	n/a	n/a
4	TAF1	chr7:87563202-87563875	ECC-1	luminal epithelium:	n/a	n/a
5	CREB1	chr7:87563122-87563820	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr7:87563246-87564074	MCF-7	breast:	n/a	n/a
7	MXI1	chr7:87562965-87563837	GM12878	blood:	n/a	n/a
8	FOXP2	chr7:87563196-87563699	SK-N-MC	brain:	n/a	n/a
9	YY1	chr7:87563221-87563757	HCT-116	colon:	n/a	chr7:87563724-87563733 chr7:87563681-87563690
10	MYBL2	chr7:87563195-87563714	HepG2	liver:	n/a	n/a
11	POLR2A	chr7:87563092-87563969	Raji	blood:	n/a	n/a
12	SIX5	chr7:87563249-87563642	H1-hESC	embryonic stem cell:	n/a	chr7:87563394-87563408 chr7:87563396-87563405 chr7:87563398-87563407
13	TCF12	chr7:87563267-87563702	H1-hESC	embryonic stem cell:	n/a	n/a
14	EP300	chr7:87563192-87563718	SK-N-SH_RA	brain:	n/a	n/a
15	POLR2A	chr7:87563188-87563937	GM10847	blood:	n/a	n/a
16	USF1	chr7:87563082-87563944	SK-N-SH	brain:	n/a	chr7:87563337-87563348
17	POLR2A	chr7:87563364-87563769	PANC-1	pancreas:	n/a	n/a
18	ELK1	chr7:87563337-87563840	GM12878	blood:	n/a	n/a
19	EBF1	chr7:87563277-87563660	GM12878	blood:	n/a	n/a
20	STAT5A	chr7:87563215-87563933	GM12878	blood:	n/a	chr7:87563898-87563918
21	POLR2A	chr7:87563333-87563734	Hela-S3	cervix:	n/a	n/a
22	PML	chr7:87563297-87563742	GM12878	blood:	n/a	n/a
23	ELF1	chr7:87563068-87563977	GM12878	blood:	n/a	chr7:87563645-87563657
24	NFYB	chr7:87563367-87563726	GM12878	blood:	n/a	n/a
25	YY1	chr7:87563232-87563791	GM12891	blood:	n/a	chr7:87563724-87563733 chr7:87563681-87563690
26	CTCF	chr7:87563360-87563510	GM12865	blood:	n/a	n/a
27	CTCF	chr7:87563342-87563825	GM12891	blood:	n/a	chr7:87563577-87563590
28	MAZ	chr7:87563259-87563881	HepG2	liver:	n/a	chr7:87563577-87563587
29	USF1	chr7:87563091-87563843	ECC-1	luminal epithelium:	n/a	chr7:87563337-87563348
30	E2F1	chr7:87563254-87563806	Hela-S3	cervix:	n/a	chr7:87563725-87563735 chr7:87563696-87563705 chr7:87563420-87563434
31	E2F6	chr7:87563268-87563477	K562	blood:	n/a	chr7:87563420-87563434
32	ELF1	chr7:87563188-87563822	GM12878	blood:	n/a	chr7:87563645-87563657
33	MYC	chr7:87563329-87563473	K562	blood:	n/a	n/a
34	CTCF	chr7:87563380-87563530	AG09319	gingival:	n/a	n/a
35	POLR2A	chr7:87563127-87564650	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr7:87563370-87563904	ProgFib	skin:	n/a	n/a
37	RUNX3	chr7:87563098-87563986	GM12878	blood:	n/a	n/a
38	RCOR1	chr7:87563043-87563813	HepG2	liver:	n/a	n/a
39	HDAC2	chr7:87563168-87563798	MCF-7	breast:	n/a	n/a
40	YY1	chr7:87563136-87563852	HepG2	liver:	n/a	chr7:87563724-87563733 chr7:87563681-87563690
41	SIN3AK20	chr7:87563138-87564236	SK-N-SH	brain:	n/a	n/a
42	MAX	chr7:87563172-87564068	HepG2	liver:	n/a	chr7:87563577-87563587
43	EGR1	chr7:87563324-87563786	GM12878	blood:	n/a	chr7:87563395-87563419 chr7:87563678-87563688 chr7:87563551-87563558
44	POLR2A	chr7:87563117-87563938	SK-N-MC	brain:	n/a	n/a
45	BACH1	chr7:87563085-87563801	H1-hESC	embryonic stem cell:	n/a	n/a
46	TAF1	chr7:87563320-87563867	HepG2	liver:	n/a	n/a
47	TCF12	chr7:87563084-87563830	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr7:87563289-87563945	Gliobla	brain:	n/a	n/a
49	HCFC1	chr7:87563233-87563615	K562	blood:	n/a	n/a
50	EP300	chr7:87563173-87563767	SK-N-SH_RA	brain:	n/a	chr7:87563726-87563735 chr7:87563724-87563733 chr7:87563723-87563732

Variant related genes	Relation type
ADAM22	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10216040	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs10225955	0.84[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs10230766	1.00[AMR][1000 genomes]
rs10231094	0.86[AFR][1000 genomes]
rs10235854	0.86[AFR][1000 genomes]
rs10245767	0.81[LWK][hapmap];0.80[YRI][hapmap]
rs10249603	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs10253864	0.86[AFR][1000 genomes]
rs10255051	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs10256319	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs10263074	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs10263159	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs10264991	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs10266417	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs10280397	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs10487000	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs11982729	0.84[ASW][hapmap];0.89[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs12019344	1.00[AMR][1000 genomes]
rs12532358	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs17149924	0.86[AFR][1000 genomes]
rs17149946	0.84[AFR][1000 genomes]
rs17149963	0.84[AFR][1000 genomes]
rs17150006	0.86[AFR][1000 genomes]
rs17150008	0.86[AFR][1000 genomes]
rs2041049	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs28375568	0.84[AFR][1000 genomes]
rs28379741	0.84[AFR][1000 genomes]
rs28452149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28468388	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28470575	0.95[AFR][1000 genomes]
rs28535947	0.86[AFR][1000 genomes]
rs28666506	0.95[AFR][1000 genomes]
rs28742881	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs28827241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28847692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28890472	0.86[AFR][1000 genomes]
rs6955897	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs6962399	1.00[AMR][1000 genomes]
rs7794263	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs9655953	0.82[AFR][1000 genomes]
rs9986978	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1023352	chr7:87418818-88192925	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539005	chr7:87418818-88192925	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv888696	chr7:87526944-87594188	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv525073	chr7:87535096-87812968	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv529001	chr7:87541248-87564277	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3343288	chr7:87547350-87571066	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87562800-87563400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr7:87562800-87563400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr7:87562800-87563400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr7:87562800-87563400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:87562800-87563600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:87562800-87564000	Active TSS	Muscle Satellite Cultured Cells	--
7	chr7:87562800-87564200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr7:87562800-87564200	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr7:87562800-87564200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:87562800-87564400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:87562800-87564400	Bivalent/Poised TSS	A549	lung
12	chr7:87562800-87564400	Active TSS	GM12878-XiMat	blood
13	chr7:87562800-87564600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:87562800-87564600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:87562800-87564600	Active TSS	Brain Angular Gyrus	brain
16	chr7:87562800-87564600	Active TSS	Fetal Brain Female	brain
17	chr7:87562800-87564800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr7:87562800-87565000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr7:87562800-87565000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr7:87562800-87565000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr7:87562800-87565200	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr7:87563000-87563400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr7:87563000-87563400	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr7:87563000-87563400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr7:87563000-87563400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr7:87563000-87563400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:87563000-87563400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:87563000-87563400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:87563000-87563400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr7:87563000-87563400	Enhancers	Placenta	Placenta
31	chr7:87563000-87563400	Flanking Active TSS	Thymus	Thymus
32	chr7:87563000-87563600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:87563000-87563600	Active TSS	Primary B cells from cord blood	blood
34	chr7:87563000-87563600	Active TSS	Brain Germinal Matrix	brain
35	chr7:87563000-87563600	Active TSS	Colonic Mucosa	Colon
36	chr7:87563000-87563600	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr7:87563000-87563800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr7:87563000-87563800	Active TSS	Adipose Nuclei	Adipose
39	chr7:87563000-87563800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr7:87563000-87563800	Active TSS	Fetal Muscle Trunk	muscle
41	chr7:87563000-87563800	Active TSS	Fetal Stomach	stomach
42	chr7:87563000-87563800	Bivalent/Poised TSS	NHEK	skin
43	chr7:87563000-87564000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:87563000-87564000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr7:87563000-87564000	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr7:87563000-87564000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:87563000-87564000	Active TSS	Fetal Muscle Leg	muscle
48	chr7:87563000-87564000	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr7:87563000-87564000	Active TSS	K562	blood
50	chr7:87563000-87564200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links