Variant report

Variant	rs7780748
Chromosome Location	chr7:116518364-116518365
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	TBL1XR1	chr7:116518015-116518439	K562	blood:	n/a	n/a
2	CUX1	chr7:116517998-116518413	K562	blood:	n/a	chr7:116518050-116518066
3	GATA1	chr7:116516142-116518890	K562	blood:	n/a	chr7:116518144-116518153 chr7:116518429-116518440

No.	Distal block	Cell Line	Cell type
1	chr7:116501025..116504036-chr7:116513935..116518644,4	K562	blood:
2	chr7:116501242..116506265-chr7:116510058..116522773,18	MCF-7	breast:
3	chr7:116517701..116519651-chr7:116609886..116612746,2	K562	blood:
4	chr7:116502425..116505177-chr7:116515500..116518644,3	K562	blood:
5	chr7:116508330..116511124-chr7:116517132..116519490,2	MCF-7	breast:
6	chr7:116517339..116520161-chr7:116596333..116598707,2	K562	blood:
7	chr7:116500082..116503842-chr7:116515531..116518522,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235945	TF binding region
ENSG00000198898	Chromatin interaction
ENSG00000214188	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1060513	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1060514	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11981133	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4730767	1.00[TSI][hapmap]
rs6952406	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6961375	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6967466	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7777997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7786948	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7790214	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7791219	0.86[AFR][1000 genomes]
rs7796146	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116503800-116554400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:116504400-116528800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:116504400-116533000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:116504600-116540800	Weak transcription	Fetal Kidney	kidney
5	chr7:116505000-116525200	Weak transcription	NHDF-Ad	bronchial
6	chr7:116505000-116533600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:116505000-116537400	Weak transcription	Brain Germinal Matrix	brain
8	chr7:116506000-116529200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:116506000-116554600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:116507600-116528000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:116511200-116528800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:116511400-116525400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:116511400-116528000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:116511400-116554600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:116512000-116545400	Weak transcription	NHLF	lung
16	chr7:116512200-116519000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:116512200-116529400	Weak transcription	Osteobl	bone
18	chr7:116512800-116519000	Strong transcription	Primary B cells from cord blood	blood
19	chr7:116513200-116528400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:116513600-116528600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr7:116514000-116525400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:116514200-116528200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:116514400-116518400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:116514400-116524600	Weak transcription	Placenta	Placenta
25	chr7:116514400-116528000	Weak transcription	HSMM	muscle
26	chr7:116514400-116530600	Weak transcription	HMEC	breast
27	chr7:116514400-116531600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:116514600-116525400	Weak transcription	Thymus	Thymus
29	chr7:116514600-116525600	Weak transcription	A549	lung
30	chr7:116514600-116537800	Weak transcription	NHEK	skin
31	chr7:116514800-116518800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:116514800-116526400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr7:116515200-116525400	Weak transcription	Spleen	Spleen
34	chr7:116515400-116559200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:116516000-116524600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr7:116516200-116518800	Enhancers	Fetal Intestine Large	intestine
37	chr7:116516400-116518800	Enhancers	Brain Anterior Caudate	brain
38	chr7:116516400-116518800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr7:116516600-116518600	Enhancers	Fetal Intestine Small	intestine
40	chr7:116516600-116518800	Enhancers	Liver	Liver
41	chr7:116516600-116518800	Enhancers	Small Intestine	intestine
42	chr7:116516600-116520000	Enhancers	Colon Smooth Muscle	Colon
43	chr7:116516600-116520200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr7:116516800-116518800	Enhancers	Brain Substantia Nigra	brain
45	chr7:116516800-116518800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr7:116516800-116520200	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr7:116516800-116525400	Weak transcription	Fetal Thymus	thymus
48	chr7:116516800-116526600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:116516800-116551200	Weak transcription	Brain Angular Gyrus	brain
50	chr7:116517000-116518400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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