Variant report

Variant	rs73344909
Chromosome Location	chr7:6520118-6520119
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:6519905-6520276	K562	blood:	n/a	n/a
2	POLR2A	chr7:6519973-6520325	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:6519964-6520256	K562	blood:	n/a	n/a
4	POLR2A	chr7:6519657-6520335	GM12891	blood:	n/a	n/a
5	POLR2A	chr7:6519345-6521609	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:6519412-6520792	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:6520097-6520133	MCF-7	breast:	n/a	n/a
8	POLR2A	chr7:6519575-6520270	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:6519335-6521689	IMR90	lung:	n/a	n/a
10	POLR2A	chr7:6519940-6521090	HepG2	liver:	n/a	n/a
11	POLR2A	chr7:6519441-6520612	K562	blood:	n/a	n/a
12	POLR2A	chr7:6519985-6520286	K562	blood:	n/a	n/a
13	POLR2A	chr7:6519653-6520279	GM12892	blood:	n/a	n/a
14	POLR2A	chr7:6520058-6520204	H1-hESC	embryonic stem cell:	n/a	n/a
15	WRNIP1	chr7:6519866-6520207	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:6520062-6520224	Hela-S3	cervix:	n/a	n/a
17	CEBPZ	chr7:6519948-6520499	HepG2	liver:	n/a	n/a
18	BHLHE40	chr7:6520059-6520194	K562	blood:	n/a	n/a
19	POLR2A	chr7:6519758-6520296	GM12892	blood:	n/a	n/a
20	POLR2A	chr7:6519208-6520358	GM12878	blood:	n/a	n/a
21	GTF2F1	chr7:6520024-6520202	K562	blood:	n/a	n/a
22	POLR2A	chr7:6519742-6520279	K562	blood:	n/a	n/a
23	POLR2A	chr7:6519841-6520264	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:6517704..6522059-chr7:6522068..6526480,12	K562	blood:
2	chr7:6515936..6521284-chr7:6521487..6524392,7	MCF-7	breast:
3	chr7:6499949..6501557-chr7:6518916..6521343,2	MCF-7	breast:
4	chr7:6500191..6503008-chr7:6519492..6521377,2	K562	blood:
5	chr7:6519667..6521215-chr7:6538954..6541938,2	K562	blood:
6	chr7:6509730..6517655-chr7:6520090..6524473,18	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269781	TF binding region
ENSG00000269781	Chromatin interaction
ENSG00000136240	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1055413	1.00[AMR][1000 genomes]
rs11973422	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11983749	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57533088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73342979	1.00[AMR][1000 genomes]
rs73344908	1.00[AMR][1000 genomes]
rs73344913	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73344920	1.00[AMR][1000 genomes]
rs73344922	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription 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 target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv1026878	chr7:6490387-6592374	Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv830895	chr7:6514781-6722092	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6499600-6521800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:6503600-6522800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:6505000-6521400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr7:6507600-6522400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:6507800-6522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:6508000-6520200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:6508000-6522000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:6509200-6521400	Strong transcription	NHEK	skin
9	chr7:6509800-6522000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:6510200-6522200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:6510200-6522400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:6510200-6522600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:6511600-6521600	Weak transcription	Fetal Brain Male	brain
14	chr7:6512200-6520800	Weak transcription	Esophagus	oesophagus
15	chr7:6513200-6522400	Weak transcription	Aorta	Aorta
16	chr7:6513200-6522400	Weak transcription	Lung	lung
17	chr7:6513400-6521200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:6513400-6521200	Weak transcription	Brain Substantia Nigra	brain
19	chr7:6513600-6521200	Weak transcription	Fetal Lung	lung
20	chr7:6513800-6520600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:6514000-6522400	Weak transcription	Thymus	Thymus
22	chr7:6514200-6522000	Genic enhancers	Fetal Muscle Leg	muscle
23	chr7:6514800-6521400	Weak transcription	HMEC	breast
24	chr7:6516200-6520200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr7:6516400-6521800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:6516600-6521800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:6516800-6522000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr7:6517000-6521200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:6517000-6522000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:6517000-6522000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr7:6517000-6522600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:6517200-6521400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:6517200-6522000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:6517200-6522000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:6517200-6522000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr7:6517400-6520600	Strong transcription	Fetal Stomach	stomach
37	chr7:6517400-6521400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:6518000-6521600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:6518400-6520600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr7:6518400-6521800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:6518600-6520200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:6518600-6520200	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:6518600-6520200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
44	chr7:6518600-6520400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr7:6518800-6520200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:6518800-6520600	Enhancers	Pancreas	Pancrea
47	chr7:6518800-6521000	Strong transcription	Fetal Brain Female	brain
48	chr7:6518800-6521800	Genic enhancers	Dnd41	blood
49	chr7:6518800-6522000	Enhancers	Ovary	ovary
50	chr7:6518800-6522400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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