Variant report

Variant	rs73678333
Chromosome Location	chr7:10978643-10978644
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:10978537-10978915	K562	blood:	n/a	n/a
2	POLR2A	chr7:10978132-10978661	K562	blood:	n/a	n/a
3	BACH1	chr7:10978379-10978666	K562	blood:	n/a	n/a
4	POLR2A	chr7:10978326-10978675	HepG2	liver:	n/a	n/a
5	GATA1	chr7:10978403-10980484	PBDE	blood:	n/a	n/a
6	HCFC1	chr7:10978577-10980749	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr7:10978425-10981243	MCF10A-Er-Src	breast:	n/a	n/a
8	CHD1	chr7:10978478-10980573	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr7:10978593-10980990	PBDE	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:10978101..10982429-chr7:11011509..11017731,20	K562	blood:
2	chr7:10976808..10978708-chr7:10978899..10981503,2	MCF-7	breast:
3	chr7:10975906..10982429-chr7:11007978..11018673,26	K562	blood:
4	chr7:10977305..10982144-chr7:11011875..11016071,10	MCF-7	breast:
5	chr7:10978242..10981238-chr7:11011671..11015550,7	MCF-7	breast:
6	chr7:10978313..10981160-chr7:11099563..11101890,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271185	TF binding region
NDUFA4	TF binding region
ENSG00000106443	Chromatin interaction
ENSG00000271185	Chromatin interaction
ENSG00000189043	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs6974915	0.88[AFR][1000 genomes]
rs73678315	0.84[AFR][1000 genomes]
rs73678336	0.88[AFR][1000 genomes]
rs73678337	0.88[AFR][1000 genomes]
rs73678338	0.88[AFR][1000 genomes]
rs73678538	0.84[AFR][1000 genomes]
rs7783877	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1018905	chr7:10679889-10980691	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv887600	chr7:10807685-11090546	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv949387	chr7:10815994-11281536	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	esv2752140	chr7:10817060-11029748	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv1029882	chr7:10872162-11371145	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv1031498	chr7:10882696-11110412	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv464364	chr7:10904752-10988866	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv606193	chr7:10904752-10988866	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv887601	chr7:10912949-11049523	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
18	nsv1027289	chr7:10976057-10992462	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:10969200-10979000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:10971200-10979200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:10975600-10979000	Weak transcription	Small Intestine	intestine
4	chr7:10976800-10979000	Weak transcription	Esophagus	oesophagus
5	chr7:10977000-10980800	Active TSS	Aorta	Aorta
6	chr7:10977200-10978800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:10977200-10979000	Weak transcription	Gastric	stomach
8	chr7:10977200-10979000	Weak transcription	Lung	lung
9	chr7:10977200-10979000	Weak transcription	Pancreas	Pancrea
10	chr7:10977400-10978800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr7:10977400-10979000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:10977400-10979000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:10977400-10979200	Weak transcription	Spleen	Spleen
14	chr7:10977400-10980800	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr7:10977400-10980800	Active TSS	Right Atrium	heart
16	chr7:10977600-10978800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:10977600-10978800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:10977600-10981000	Active TSS	GM12878-XiMat	blood
19	chr7:10977800-10978800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:10977800-10978800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr7:10977800-10980800	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr7:10977800-10980800	Active TSS	Right Ventricle	heart
23	chr7:10978000-10978800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:10978000-10978800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr7:10978000-10978800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr7:10978000-10978800	Flanking Active TSS	Dnd41	blood
27	chr7:10978000-10979000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:10978000-10979600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:10978000-10980600	Active TSS	A549	lung
30	chr7:10978000-10980800	Active TSS	H1 Cell Line	embryonic stem cell
31	chr7:10978000-10980800	Active TSS	Psoas Muscle	Psoas
32	chr7:10978200-10978800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr7:10978200-10978800	Flanking Active TSS	Liver	Liver
34	chr7:10978200-10978800	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr7:10978200-10978800	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr7:10978200-10978800	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr7:10978200-10978800	Flanking Active TSS	NHEK	skin
38	chr7:10978200-10978800	Flanking Active TSS	Osteobl	bone
39	chr7:10978200-10979000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr7:10978200-10979000	Flanking Active TSS	HUVEC	blood vessel
41	chr7:10978200-10979200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr7:10978200-10979200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:10978200-10979400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:10978200-10980400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:10978200-10980400	Active TSS	NHLF	lung
46	chr7:10978200-10980600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:10978200-10980600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:10978200-10980600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:10978200-10980600	Active TSS	Fetal Stomach	stomach
50	chr7:10978200-10980600	Active TSS	HSMM	muscle

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