Variant report

Variant	rs7786786
Chromosome Location	chr7:127526479-127526480
allele	C/T
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	GATA3	chr7:127525722-127526522	SK-N-SH	brain:	n/a	chr7:127526317-127526327
2	MAX	chr7:127525854-127526553	K562	blood:	n/a	n/a
3	CEBPB	chr7:127526055-127526612	K562	blood:	n/a	chr7:127526408-127526421
4	GATA1	chr7:127525157-127526783	PBDE	blood:	n/a	chr7:127526317-127526327
5	MYC	chr7:127525880-127526585	K562	blood:	n/a	n/a
6	BHLHE40	chr7:127525827-127526608	K562	blood:	n/a	n/a
7	TAL1	chr7:127525890-127526502	K562	blood:	n/a	n/a
8	CEBPB	chr7:127526004-127526607	IMR90	lung:	n/a	chr7:127526408-127526421
9	TEAD4	chr7:127525803-127526644	K562	blood:	n/a	n/a
10	CEBPD	chr7:127525814-127526561	K562	blood:	n/a	n/a
11	STAT5A	chr7:127525810-127526597	K562	blood:	n/a	n/a
12	ZNF384	chr7:127525994-127526532	K562	blood:	n/a	n/a
13	CEBPB	chr7:127525919-127526719	K562	blood:	n/a	chr7:127526408-127526421
14	MXI1	chr7:127525831-127526658	IMR90	lung:	n/a	n/a
15	RCOR1	chr7:127525951-127526554	K562	blood:	n/a	n/a
16	POLR2A	chr7:127525866-127530344	K562	blood:	n/a	n/a
17	ATF1	chr7:127525926-127526611	K562	blood:	n/a	n/a
18	RCOR1	chr7:127525891-127526614	K562	blood:	n/a	n/a
19	ARID3A	chr7:127525797-127526609	K562	blood:	n/a	n/a
20	MAFK	chr7:127525926-127526556	K562	blood:	n/a	n/a
21	STAT5A	chr7:127525920-127526597	K562	blood:	n/a	n/a
22	JUN	chr7:127525755-127526502	K562	blood:	n/a	chr7:127526158-127526166 chr7:127526157-127526167 chr7:127526157-127526167
23	JUND	chr7:127525858-127526551	K562	blood:	n/a	chr7:127526158-127526166 chr7:127526157-127526167 chr7:127526157-127526167
24	CEBPD	chr7:127525886-127526628	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127525174..127527787-chr7:127536931..127538683,2	K562	blood:
2	chr7:127519364..127522726-chr7:127524466..127527535,4	K562	blood:

Variant related genes	Relation type
SND1	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10226394	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[EUR][1000 genomes]
rs10229165	0.82[ASN][1000 genomes]
rs10239440	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10246505	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10249616	0.85[AMR][1000 genomes]
rs10265516	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10280863	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1035295	0.92[EUR][1000 genomes]
rs11765620	0.87[ASN][1000 genomes]
rs11767317	0.84[ASN][1000 genomes]
rs11773160	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1440972	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3757764	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3757768	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3808080	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3808081	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3808083	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3808089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4473953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57103099	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6467152	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6943219	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6943385	0.85[ASN][1000 genomes]
rs6947779	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6953134	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[LWK][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6965698	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6968751	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs6969353	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6976887	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6979634	0.81[ASN][1000 genomes]
rs73450923	0.85[ASN][1000 genomes]
rs7778413	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.98[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7783102	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7783478	0.85[ASN][1000 genomes]
rs7784200	0.88[ASW][hapmap];0.88[CHB][hapmap]
rs7792695	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr7:127485200-127527800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:127491400-127527800	Weak transcription	Liver	Liver
3	chr7:127500200-127535400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:127500400-127527800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:127500400-127527800	Weak transcription	Dnd41	blood
6	chr7:127500400-127528000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:127500600-127527400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr7:127501000-127527800	Weak transcription	Fetal Thymus	thymus
9	chr7:127505400-127537800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:127505600-127528400	Weak transcription	Hela-S3	cervix
11	chr7:127505800-127539600	Weak transcription	Small Intestine	intestine
12	chr7:127505800-127542000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:127512600-127528000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:127514800-127531000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:127515400-127527800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr7:127515400-127540600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:127516000-127527000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:127516000-127527800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr7:127516000-127528000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:127516400-127528600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:127516400-127540200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr7:127518400-127527000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:127518400-127528200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:127518600-127528000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:127518800-127527000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr7:127518800-127527800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:127519800-127527800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr7:127519800-127527800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:127521800-127529800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr7:127522200-127526800	Enhancers	Brain Cingulate Gyrus	brain
31	chr7:127522200-127527200	Weak transcription	Thymus	Thymus
32	chr7:127522200-127527600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr7:127522400-127527800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:127522400-127530200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr7:127523000-127527200	Enhancers	Brain Hippocampus Middle	brain
36	chr7:127523200-127531200	Weak transcription	Fetal Kidney	kidney
37	chr7:127523800-127527400	Enhancers	HSMMtube	muscle
38	chr7:127524200-127529200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:127524400-127526600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:127524400-127526600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr7:127524400-127526600	Enhancers	Fetal Muscle Leg	muscle
42	chr7:127524400-127526600	Enhancers	Right Atrium	heart
43	chr7:127524400-127526800	Enhancers	Brain Substantia Nigra	brain
44	chr7:127524400-127526800	Enhancers	Osteobl	bone
45	chr7:127524400-127527000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr7:127524400-127527200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:127524400-127528200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:127524400-127529000	Enhancers	Brain Angular Gyrus	brain
49	chr7:127524400-127529200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:127524400-127529200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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