Variant report

Variant	rs73208537
Chromosome Location	chr7:86830130-86830131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:86829959-86830304	GM12891	blood:	n/a	n/a
2	POLR2A	chr7:86829090-86830786	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr7:86829239-86830271	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr7:86829810-86830301	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr7:86829174-86830143	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:86830091-86830224	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:86828315-86830844	SK-N-MC	brain:	n/a	n/a
8	WRNIP1	chr7:86829576-86830205	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:86829218-86830685	A549	lung:	n/a	n/a
10	POLR2A	chr7:86829313-86830246	K562	blood:	n/a	n/a
11	POLR2A	chr7:86830037-86830299	H1-hESC	embryonic stem cell:	n/a	n/a
12	STAT1	chr7:86830119-86830217	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:86827814-86830796	GM12892	blood:	n/a	n/a
14	POLR2A	chr7:86830093-86830408	MCF-7	breast:	n/a	n/a
15	POLR2A	chr7:86828115-86830940	GM12892	blood:	n/a	n/a
16	POLR2A	chr7:86829039-86830155	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr7:86830035-86830273	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:86829997-86830347	GM12891	blood:	n/a	n/a
19	POLR2A	chr7:86829057-86830376	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:86828034-86830355	GM12891	blood:	n/a	n/a
21	POLR2A	chr7:86829378-86830390	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr7:86827931-86832734	GM18505	blood:	n/a	n/a
23	POLR2A	chr7:86829984-86830333	K562	blood:	n/a	n/a
24	POLR2A	chr7:86827959-86834469	GM12891	blood:	n/a	n/a
25	POLR2A	chr7:86828270-86830908	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr7:86829082-86830348	GM12891	blood:	n/a	n/a
27	NFATC1	chr7:86828125-86830150	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:86827917-86832918	GM12878	blood:	n/a	n/a
29	POLR2A	chr7:86827909-86833452	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:86830000-86830274	HepG2	liver:	n/a	n/a
31	POLR2A	chr7:86829444-86830166	K562	blood:	n/a	n/a
32	POLR2A	chr7:86819363-86833788	K562	blood:	n/a	n/a
33	POLR2A	chr7:86828970-86830333	GM12892	blood:	n/a	n/a
34	POLR2A	chr7:86830057-86830253	H1-hESC	embryonic stem cell:	n/a	n/a
35	MTA3	chr7:86829164-86830202	GM12878	blood:	n/a	n/a
36	NFATC1	chr7:86827898-86830828	GM12878	blood:	n/a	n/a
37	POLR2A	chr7:86827964-86830849	GM12892	blood:	n/a	n/a
38	POLR2A	chr7:86829174-86830322	HCT-116	colon:	n/a	n/a
39	POLR2A	chr7:86828020-86833495	Hela-S3	cervix:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:86828750..86830318-chr7:86830762..86833577,2	MCF-7	breast:
2	chr7:86829249..86831947-chr7:86848696..86850606,2	MCF-7	breast:
3	chr7:86826618..86828739-chr7:86829824..86832016,2	K562	blood:

No data

Variant related genes	Relation type
TMEM243	TF binding region
ENSG00000135185	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11762311	0.86[AMR][1000 genomes]
rs11769063	0.86[AMR][1000 genomes]
rs11771569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11773103	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971131	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11978231	0.83[AMR][1000 genomes]
rs17161329	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55750589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55834411	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56378450	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73202978	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73202980	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73202982	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73202993	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73204819	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73204890	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73204892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73204895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73206905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73206912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73206916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73206937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73206984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73208507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73208517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73208522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73208546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73210234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73210242	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73210250	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73210264	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv1016761	chr7:86758544-86914152	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	nsv888676	chr7:86781423-86858824	Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Enhancers 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	57 gene(s)	inside rSNPs	diseases
7	nsv1026193	chr7:86790391-86856448	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv539003	chr7:86790391-86856448	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases
9	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86783000-86834000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:86788600-86830400	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr7:86788600-86832400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:86789000-86832400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:86789000-86832400	Strong transcription	Dnd41	blood
6	chr7:86789400-86830800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr7:86789600-86832400	Strong transcription	Fetal Thymus	thymus
8	chr7:86789800-86833000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:86791000-86831600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:86791400-86831800	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:86791400-86831800	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:86791600-86830600	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr7:86791600-86830600	Strong transcription	NHDF-Ad	bronchial
14	chr7:86791800-86831000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:86792400-86831600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:86792600-86830800	Strong transcription	Primary B cells from cord blood	blood
17	chr7:86792600-86832200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:86793400-86833400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:86794200-86832200	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr7:86803400-86831400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:86804600-86832400	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr7:86807000-86832200	Strong transcription	HSMM	muscle
23	chr7:86808600-86830200	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr7:86808800-86830600	Strong transcription	Fetal Muscle Trunk	muscle
25	chr7:86810600-86832200	Strong transcription	Osteobl	bone
26	chr7:86810800-86830400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:86810800-86832000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:86814000-86832600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:86814400-86831800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:86815800-86831800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:86817000-86831600	Weak transcription	Fetal Intestine Small	intestine
32	chr7:86817200-86830800	Strong transcription	NH-A	brain
33	chr7:86819400-86832200	Strong transcription	Primary hematopoietic stem cells	blood
34	chr7:86820200-86832200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:86821000-86847400	Weak transcription	Stomach Mucosa	stomach
36	chr7:86822000-86832200	Strong transcription	A549	lung
37	chr7:86822200-86841800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:86823600-86832200	Weak transcription	Pancreas	Pancrea
39	chr7:86823600-86834000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:86823600-86834000	Weak transcription	Esophagus	oesophagus
41	chr7:86823600-86834000	Weak transcription	Fetal Stomach	stomach
42	chr7:86825000-86831400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr7:86825000-86831600	Weak transcription	Small Intestine	intestine
44	chr7:86825000-86832000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:86825000-86833800	Weak transcription	Spleen	Spleen
46	chr7:86825000-86834000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:86825000-86834000	Weak transcription	Lung	lung
48	chr7:86825000-86840000	Weak transcription	Ovary	ovary
49	chr7:86825200-86831400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:86825200-86834000	Weak transcription	Colonic Mucosa	Colon

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