Variant report

Variant	rs73055475
Chromosome Location	chr7:12770640-12770641
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:12768354..12771175-chr7:12788288..12790278,2	K562	blood:
2	chr7:12725861..12727450-chr7:12769248..12771413,2	K562	blood:
3	chr7:12758686..12761264-chr7:12769370..12772291,2	MCF-7	breast:
4	chr7:12769733..12771692-chr8:55206827..55208347,2	K562	blood:
5	chr7:12769404..12771505-chr7:12844117..12845724,2	K562	blood:
6	chr7:12443181..12445165-chr7:12769138..12771677,2	K562	blood:
7	chr7:12729128..12735523-chr7:12765929..12775781,12	K562	blood:
8	chr7:12768764..12771206-chr7:12785480..12787516,3	K562	blood:
9	chr7:12762443..12764537-chr7:12768925..12771738,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000122644	Chromatin interaction
ENSG00000146530	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs13224178	1.00[AFR][1000 genomes]
rs13224956	1.00[AFR][1000 genomes]
rs13227930	1.00[AFR][1000 genomes]
rs13232089	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13242483	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17616248	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17616514	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28877021	1.00[ASN][1000 genomes]
rs34452532	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34539754	1.00[AFR][1000 genomes]
rs34566369	1.00[AFR][1000 genomes]
rs34580221	1.00[AFR][1000 genomes]
rs35044018	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35908302	1.00[AFR][1000 genomes]
rs55659055	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56246037	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66620565	1.00[AFR][1000 genomes]
rs67346212	1.00[AFR][1000 genomes]
rs71529345	1.00[AFR][1000 genomes]
rs71536895	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73053466	1.00[AFR][1000 genomes]
rs73055418	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73055421	1.00[ASN][1000 genomes]
rs73055427	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73055444	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73055447	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73055457	1.00[ASN][1000 genomes]
rs73055460	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73055491	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73061007	1.00[ASN][1000 genomes]
rs73061023	1.00[ASN][1000 genomes]
rs73061030	1.00[ASN][1000 genomes]
rs892714	1.00[AFR][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	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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	58 gene(s)	inside rSNPs	diseases
3	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	esv2422346	chr7:12739291-12883550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv887641	chr7:12747443-12782062	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12756400-12770800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr7:12756600-12770800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:12758000-12770800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:12759200-12771200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:12760400-12770800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:12762600-12770800	Weak transcription	Stomach Mucosa	stomach
7	chr7:12762800-12770800	Weak transcription	Small Intestine	intestine
8	chr7:12766600-12771800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:12766600-12772000	Enhancers	HUVEC	blood vessel
10	chr7:12766800-12771600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:12767800-12770800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:12767800-12771200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr7:12768000-12771600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:12768400-12770800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:12768400-12771000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:12768600-12771800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr7:12768800-12771600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:12769000-12771800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:12769200-12770800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:12769200-12770800	Weak transcription	Brain Angular Gyrus	brain
21	chr7:12769200-12770800	Weak transcription	Esophagus	oesophagus
22	chr7:12769200-12770800	Weak transcription	Left Ventricle	heart
23	chr7:12769200-12770800	Weak transcription	Right Atrium	heart
24	chr7:12769200-12770800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:12769200-12771000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:12769200-12771200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:12769200-12771600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:12769400-12772400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:12769600-12771600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:12769600-12772400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:12769800-12770800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:12769800-12770800	Weak transcription	Ovary	ovary
33	chr7:12769800-12771800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr7:12769800-12772200	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr7:12770000-12771200	Enhancers	Fetal Stomach	stomach
36	chr7:12770000-12771600	Enhancers	A549	lung
37	chr7:12770000-12771800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:12770000-12772000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr7:12770000-12772000	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr7:12770000-12772400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr7:12770200-12770800	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr7:12770200-12771400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:12770200-12771400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr7:12770200-12771400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr7:12770200-12771400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr7:12770200-12771400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:12770200-12771400	Flanking Active TSS	K562	blood
48	chr7:12770200-12771600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr7:12770200-12772200	Enhancers	Primary T cells from cord blood	blood
50	chr7:12770600-12770800	Enhancers	Pancreas	Pancrea

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