Variant report

Variant	rs34393727
Chromosome Location	chr7:127688513-127688514
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	chr7:127672187..127674051-chr7:127688300..127690712,2	K562	blood:
2	chr7:127671221..127673486-chr7:127687426..127690797,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128594	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12706824	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13223326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13232846	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13238717	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13240628	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17733783	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34209480	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35013916	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs35081291	0.84[AFR][1000 genomes]
rs35584770	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35602492	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3757762	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3779525	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3808062	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62481453	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62483978	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6948752	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7788592	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127669400-127726600	Weak transcription	Hela-S3	cervix
2	chr7:127669600-127718200	Weak transcription	A549	lung
3	chr7:127670400-127698800	Weak transcription	Dnd41	blood
4	chr7:127672600-127695400	Weak transcription	Aorta	Aorta
5	chr7:127673000-127692600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:127673000-127692800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr7:127673000-127697800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:127673200-127692600	Weak transcription	Right Atrium	heart
9	chr7:127673200-127712000	Weak transcription	Esophagus	oesophagus
10	chr7:127673600-127692200	Weak transcription	Adipose Nuclei	Adipose
11	chr7:127673600-127692200	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:127673600-127692200	Weak transcription	Gastric	stomach
13	chr7:127673800-127703400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:127673800-127715400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:127674600-127692200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:127675200-127692200	Weak transcription	Pancreas	Pancrea
17	chr7:127675200-127695200	Weak transcription	Psoas Muscle	Psoas
18	chr7:127675800-127692800	Weak transcription	Fetal Lung	lung
19	chr7:127678000-127701200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr7:127680000-127697600	Weak transcription	Thymus	Thymus
21	chr7:127680400-127698600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:127681000-127716200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:127681200-127693200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr7:127681200-127718200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr7:127681600-127714600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr7:127682000-127692000	Weak transcription	HSMMtube	muscle
27	chr7:127682000-127695400	Weak transcription	NHLF	lung
28	chr7:127682200-127691200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr7:127682600-127692200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:127682600-127693800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:127682800-127692200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:127682800-127692200	Weak transcription	Lung	lung
33	chr7:127682800-127692200	Weak transcription	Spleen	Spleen
34	chr7:127682800-127693800	Weak transcription	Fetal Stomach	stomach
35	chr7:127683000-127691800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:127683000-127696200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:127683000-127708800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr7:127683200-127692400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:127683200-127692600	Weak transcription	Brain Anterior Caudate	brain
40	chr7:127683200-127693800	Weak transcription	Placenta	Placenta
41	chr7:127683200-127695200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:127683200-127696000	Weak transcription	Primary B cells from cord blood	blood
43	chr7:127683200-127700600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr7:127683400-127692400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:127684400-127688600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:127684400-127691600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr7:127684400-127692200	Weak transcription	Left Ventricle	heart
48	chr7:127684400-127692400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr7:127684400-127694200	Weak transcription	Fetal Intestine Large	intestine
50	chr7:127684400-127701400	Weak transcription	Fetal Muscle Trunk	muscle

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