Variant report

Variant	rs13223326
Chromosome Location	chr7:127703544-127703545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127702608..127705125-chr7:127712390..127714076,2	MCF-7	breast:
2	chr7:127703319..127705715-chr7:127706907..127711079,5	K562	blood:
3	chr7:127698659..127700459-chr7:127702955..127704877,2	K562	blood:
4	chr7:127694685..127697419-chr7:127701664..127704398,3	K562	blood:

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];0.95[EUR][1000 genomes]
rs13232846	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13238717	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13240628	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17733783	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34209480	1.00[AMR][1000 genomes]
rs34393727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35013916	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs35081291	0.84[AFR][1000 genomes]
rs35584770	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35602492	0.85[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.88[TSI][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3757762	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[AMR][1000 genomes]
rs3779525	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3808062	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3808090	1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.94[TSI][hapmap]
rs62481453	0.88[AMR][1000 genomes]
rs62483978	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6948752	1.00[AMR][1000 genomes];0.80[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:102 , 50 per page) page: 1 2 3

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	chr7:127673200-127712000	Weak transcription	Esophagus	oesophagus
4	chr7:127673800-127715400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:127681000-127716200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:127681200-127718200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:127681600-127714600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:127683000-127708800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:127685000-127710400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:127689400-127717000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:127692800-127714400	Weak transcription	Right Ventricle	heart
12	chr7:127692800-127724200	Weak transcription	Right Atrium	heart
13	chr7:127693200-127718400	Weak transcription	HMEC	breast
14	chr7:127693400-127703600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:127693400-127706400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:127693400-127708800	Strong transcription	Fetal Intestine Small	intestine
17	chr7:127693400-127711600	Weak transcription	Adipose Nuclei	Adipose
18	chr7:127693400-127714200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:127693400-127716600	Weak transcription	Colonic Mucosa	Colon
20	chr7:127693400-127717200	Weak transcription	Small Intestine	intestine
21	chr7:127693600-127710200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:127694200-127707000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr7:127694400-127706400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:127694400-127707400	Weak transcription	Placenta	Placenta
25	chr7:127694400-127713600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:127694400-127716800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr7:127694600-127707200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:127694600-127707400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:127694800-127717200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:127695200-127718000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:127696400-127704400	Weak transcription	Spleen	Spleen
32	chr7:127696400-127706800	Weak transcription	Aorta	Aorta
33	chr7:127696800-127703600	Weak transcription	K562	blood
34	chr7:127696800-127706600	Weak transcription	Fetal Intestine Large	intestine
35	chr7:127697200-127714800	Weak transcription	HUVEC	blood vessel
36	chr7:127697600-127707000	Strong transcription	GM12878-XiMat	blood
37	chr7:127698200-127713600	Weak transcription	Osteobl	bone
38	chr7:127698400-127714600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:127698600-127703600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:127698800-127705400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:127698800-127707600	Weak transcription	HSMMtube	muscle
42	chr7:127699800-127714600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr7:127700000-127712000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:127700400-127704400	Weak transcription	Primary B cells from cord blood	blood
45	chr7:127700400-127711600	Weak transcription	Dnd41	blood
46	chr7:127700400-127714600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:127700400-127714600	Weak transcription	Left Ventricle	heart
48	chr7:127700400-127714800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:127700400-127715400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr7:127700400-127715400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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