Variant report

Variant	rs73717530
Chromosome Location	chr7:111970316-111970317
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111963557..111967020-chr7:111968697..111972390,4	K562	blood:
2	chr7:111949931..111951481-chr7:111969749..111972732,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11976430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34571830	0.93[AFR][1000 genomes]
rs55731771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55780403	1.00[AMR][1000 genomes]
rs61142815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715502	0.93[AFR][1000 genomes]
rs73717512	1.00[AFR][1000 genomes]
rs73717517	1.00[AFR][1000 genomes]
rs73717527	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73717532	0.93[AFR][1000 genomes]
rs73717533	0.93[AFR][1000 genomes]
rs73717535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73717543	0.87[AFR][1000 genomes]
rs73717548	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
4	nsv1020212	chr7:111944370-112032596	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv5902	chr7:111952128-111997265	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111926200-111979600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:111926600-111982200	Weak transcription	Right Ventricle	heart
3	chr7:111928600-111978000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:111931000-111981000	Weak transcription	HSMMtube	muscle
5	chr7:111943000-111978600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr7:111943000-111985200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:111945200-111986800	Weak transcription	Hela-S3	cervix
8	chr7:111947400-111981000	Weak transcription	Brain Angular Gyrus	brain
9	chr7:111956200-111977200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:111956200-111982400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:111956200-111983200	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:111957400-111980200	Weak transcription	NHDF-Ad	bronchial
13	chr7:111957800-111980200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr7:111958800-111987400	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:111959000-111972400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:111959000-111982400	Weak transcription	HUVEC	blood vessel
17	chr7:111960800-111990000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:111961000-111987000	Weak transcription	Small Intestine	intestine
19	chr7:111961800-111986000	Weak transcription	K562	blood
20	chr7:111962000-111978800	Weak transcription	HSMM	muscle
21	chr7:111962200-111970400	Strong transcription	Liver	Liver
22	chr7:111962200-111971000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:111962200-111971000	Weak transcription	Fetal Brain Female	brain
24	chr7:111962200-111978600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr7:111962200-111982200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:111962400-111971000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:111962400-111977800	Weak transcription	Psoas Muscle	Psoas
28	chr7:111962600-111972800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr7:111963200-111971000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr7:111963200-111976400	Weak transcription	Fetal Heart	heart
31	chr7:111963400-111971000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:111963600-111971000	Weak transcription	Fetal Brain Male	brain
33	chr7:111963600-111976000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:111963600-111980200	Weak transcription	A549	lung
35	chr7:111963600-111980800	Weak transcription	NHEK	skin
36	chr7:111963800-111977400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:111963800-111984400	Weak transcription	HMEC	breast
38	chr7:111963800-111987200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr7:111965400-111973800	Weak transcription	Fetal Kidney	kidney
40	chr7:111965400-111980000	Weak transcription	Brain Substantia Nigra	brain
41	chr7:111965600-111971000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr7:111965600-111971000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr7:111965600-111974200	Weak transcription	Fetal Lung	lung
44	chr7:111965600-111980200	Weak transcription	Brain Anterior Caudate	brain
45	chr7:111965800-111977800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr7:111965800-111978200	Weak transcription	Left Ventricle	heart
47	chr7:111965800-111980200	Weak transcription	Placenta	Placenta
48	chr7:111965800-111981800	Weak transcription	Colonic Mucosa	Colon
49	chr7:111965800-111985400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr7:111965800-111986800	Weak transcription	GM12878-XiMat	blood

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