Variant report

Variant	rs534638810
Chromosome Location	chr7:98971333-98971334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:98971078-98973804	HepG2	liver:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:98921655..98927239-chr7:98969297..98973851,7	MCF-7	breast:
2	chr7:98971332..98973489-chr7:99034701..99036393,2	MCF-7	breast:
3	chr7:98970391..98972681-chr7:99033800..99036309,2	K562	blood:
4	chr7:98971053..98973782-chr7:99000134..99003212,3	MCF-7	breast:
5	chr7:98923500..98925484-chr7:98970656..98974432,3	K562	blood:
6	chr7:98923522..98925484-chr7:98970656..98973873,3	K562	blood:
7	chr7:98971244..98973231-chr7:98989224..98993180,5	MCF-7	breast:
8	chr7:98954568..98956787-chr7:98970778..98974586,3	K562	blood:
9	chr7:98970407..98975516-chr7:99002028..99009396,17	MCF-7	breast:
10	chr7:98970740..98974571-chr7:99004724..99008680,16	MCF-7	breast:
11	chr7:98970545..98974719-chr7:98992685..98998543,7	MCF-7	breast:
12	chr7:98970980..98974747-chr7:98986775..98992580,7	MCF-7	breast:
13	chr7:98970993..98974296-chr7:98982055..98984760,3	K562	blood:
14	chr7:98970906..98973809-chr7:99047334..99049746,3	K562	blood:
15	chr7:98968876..98974378-chr7:99004810..99008269,11	K562	blood:
16	chr7:98966757..98974253-chr7:98988800..98995304,7	K562	blood:
17	chr7:98970707..98973711-chr7:99034539..99037806,4	MCF-7	breast:
18	chr7:98959822..98968172-chr7:98968902..98974586,14	MCF-7	breast:
19	chr7:98923206..98924865-chr7:98971213..98972924,2	MCF-7	breast:

No data

Variant related genes	Relation type
ARPC1B	TF binding region
ENSG00000106244	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000241685	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000106245	Chromatin interaction
ENSG00000130429	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831068	chr7:98819572-99006481	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	esv3399853	chr7:98970974-98971373	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv3409473	chr7:98971041-98973589	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv3520234	chr7:98971177-98971383	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 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	chr7:98924600-98971600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:98935600-98971600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:98953800-98971600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:98955000-98971600	Weak transcription	Right Atrium	heart
5	chr7:98959400-98971600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:98961200-98971600	Weak transcription	Small Intestine	intestine
7	chr7:98962200-98971600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:98962800-98971400	Weak transcription	Primary B cells from cord blood	blood
9	chr7:98964600-98971600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:98964600-98971600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:98964800-98971400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:98964800-98971400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:98965000-98971400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:98965000-98971600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr7:98965000-98971600	Weak transcription	HMEC	breast
16	chr7:98965000-98971800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:98965000-98971800	Weak transcription	Brain Substantia Nigra	brain
18	chr7:98965200-98971400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:98965200-98971400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:98965200-98971400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr7:98965200-98971400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr7:98965200-98971400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:98965200-98971600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr7:98965200-98971600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:98965200-98971600	Weak transcription	Aorta	Aorta
26	chr7:98965200-98971600	Weak transcription	Esophagus	oesophagus
27	chr7:98965200-98971600	Weak transcription	Gastric	stomach
28	chr7:98965200-98971600	Weak transcription	HUVEC	blood vessel
29	chr7:98965200-98971800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr7:98965400-98971600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:98966600-98971600	Weak transcription	GM12878-XiMat	blood
32	chr7:98966800-98971600	Weak transcription	Dnd41	blood
33	chr7:98966800-98971800	Weak transcription	Hela-S3	cervix
34	chr7:98967000-98971400	Weak transcription	A549	lung
35	chr7:98967200-98971600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr7:98967400-98971800	Weak transcription	Brain Germinal Matrix	brain
37	chr7:98967600-98971600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:98968200-98971400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:98968200-98971800	Weak transcription	HSMMtube	muscle
40	chr7:98968400-98971600	Weak transcription	Fetal Stomach	stomach
41	chr7:98968600-98971400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr7:98968800-98971400	Weak transcription	K562	blood
43	chr7:98969000-98971600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:98969400-98971600	Enhancers	Fetal Muscle Trunk	muscle
45	chr7:98969600-98971600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:98970000-98971600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:98970200-98971400	Enhancers	Primary T cells fromperipheralblood	blood
48	chr7:98970200-98971400	Enhancers	Adipose Nuclei	Adipose
49	chr7:98970200-98971400	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr7:98970200-98971600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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