Variant report

Variant	rs34061504
Chromosome Location	chr7:117434654-117434655
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:117429273-117432820..7:117432820-117434816	H1-hESC	embryonic stem cell:	embryo
2	chr7:117417544..117419614-chr7:117433934..117435626,2	K562	blood:
3	7:116610596-116619447..7:117432820-117434816	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000213050	Chromatin interaction
ENSG00000077063	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10487375	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10953849	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10953850	0.89[EUR][1000 genomes]
rs11767812	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11974874	0.89[EUR][1000 genomes]
rs12111635	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12112085	0.89[EUR][1000 genomes]
rs17140422	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17140425	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28537841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34021261	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34150886	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34276731	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34292695	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34298238	0.89[EUR][1000 genomes]
rs34456221	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34849507	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34872021	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35002306	0.89[EUR][1000 genomes]
rs35205358	0.89[EUR][1000 genomes]
rs35583564	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35638149	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35850544	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36026875	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7777671	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7791416	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7793937	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs916931	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs929667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117396400-117450200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:117421400-117444400	Weak transcription	Fetal Heart	heart
3	chr7:117428400-117448600	Weak transcription	Fetal Kidney	kidney
4	chr7:117431800-117447800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:117432200-117453000	Weak transcription	Aorta	Aorta
6	chr7:117432400-117434800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr7:117432400-117437000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:117432400-117447600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:117432400-117447800	Weak transcription	Brain Germinal Matrix	brain
10	chr7:117432600-117434800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:117432600-117436800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:117432600-117437000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:117432600-117437200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:117432600-117437200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:117432600-117437200	Weak transcription	Fetal Brain Male	brain
16	chr7:117432600-117446000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:117432600-117446200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:117432600-117447600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:117432600-117447800	Weak transcription	Fetal Lung	lung
20	chr7:117432600-117448800	Weak transcription	Fetal Intestine Small	intestine
21	chr7:117432800-117435800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:117432800-117437000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:117432800-117437000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:117432800-117441000	Weak transcription	NHLF	lung
25	chr7:117432800-117445200	Weak transcription	Fetal Brain Female	brain
26	chr7:117432800-117446000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:117432800-117447600	Weak transcription	Adipose Nuclei	Adipose
28	chr7:117432800-117448200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:117432800-117451800	Weak transcription	Fetal Stomach	stomach
30	chr7:117433000-117437000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:117433000-117440000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:117433200-117435800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:117433400-117434800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr7:117433400-117434800	Enhancers	Brain Anterior Caudate	brain
35	chr7:117433400-117434800	Enhancers	Brain Hippocampus Middle	brain
36	chr7:117433400-117434800	Enhancers	Brain Substantia Nigra	brain
37	chr7:117433800-117444000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:117433800-117444000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:117433800-117447800	Weak transcription	Esophagus	oesophagus
40	chr7:117434000-117437000	Weak transcription	Pancreas	Pancrea
41	chr7:117434200-117437200	Weak transcription	Brain Angular Gyrus	brain
42	chr7:117434200-117447000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:117434400-117435600	Weak transcription	K562	blood
44	chr7:117434400-117437000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr7:117434400-117437200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:117434600-117437000	Weak transcription	Brain Inferior Temporal Lobe	brain

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