Variant report

Variant	rs7043814
Chromosome Location	chr9:104207062-104207063
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:104190295..104194061-chr9:104205470..104208320,4	K562	blood:

Variant related genes	Relation type
ENSG00000136872	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13288923	0.87[AFR][1000 genomes]
rs13301570	0.87[AFR][1000 genomes]
rs2150736	0.83[EUR][1000 genomes]
rs55785343	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55934101	0.83[EUR][1000 genomes]
rs55956510	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57786986	0.93[EUR][1000 genomes]
rs58681636	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59291632	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59756949	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60349154	0.93[EUR][1000 genomes]
rs66532188	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66662619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66750836	0.93[EUR][1000 genomes]
rs67190360	1.00[EUR][1000 genomes]
rs67526534	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7035564	0.86[EUR][1000 genomes]
rs72743360	0.93[EUR][1000 genomes]
rs72743361	0.83[EUR][1000 genomes]
rs72743362	0.83[EUR][1000 genomes]
rs73501217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv893626	chr9:104172936-104324545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv614962	chr9:104204614-104240708	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104195600-104207200	Enhancers	HepG2	liver
2	chr9:104197000-104211400	Weak transcription	Right Atrium	heart
3	chr9:104197400-104209600	Enhancers	Fetal Intestine Large	intestine
4	chr9:104204800-104211400	Weak transcription	Left Ventricle	heart
5	chr9:104205000-104209600	Enhancers	Fetal Intestine Small	intestine
6	chr9:104205200-104208000	Enhancers	Colon Smooth Muscle	Colon
7	chr9:104205600-104207200	Enhancers	Brain Anterior Caudate	brain
8	chr9:104205600-104211400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:104205800-104207200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:104205800-104207600	Enhancers	Duodenum Mucosa	Duodenum
11	chr9:104205800-104208200	Enhancers	Brain Hippocampus Middle	brain
12	chr9:104205800-104211000	Weak transcription	Fetal Heart	heart
13	chr9:104206000-104209000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr9:104206000-104210800	Weak transcription	Psoas Muscle	Psoas
15	chr9:104206200-104207200	Enhancers	Liver	Liver
16	chr9:104206200-104207600	Weak transcription	Brain Substantia Nigra	brain
17	chr9:104206200-104207600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr9:104206200-104207600	Weak transcription	Stomach Mucosa	stomach
19	chr9:104206400-104207600	Weak transcription	Brain Angular Gyrus	brain
20	chr9:104206400-104207600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr9:104206400-104207600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr9:104206400-104211400	Weak transcription	Brain Germinal Matrix	brain
23	chr9:104206600-104210800	Weak transcription	Fetal Brain Female	brain
24	chr9:104207000-104210800	Weak transcription	Fetal Muscle Leg	muscle
25	chr9:104207000-104211400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr9:104207000-104211400	Weak transcription	Pancreas	Pancrea

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