Variant report

Variant	rs73085343
Chromosome Location	chr3:42702907-42702908
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:42702080..42703037-chr3:42791145..42791706,3	K562	blood:
2	chr3:42702105..42703087-chr3:42796854..42797465,3	MCF-7	breast:
3	chr3:42702195..42702950-chr3:42791156..42791913,2	MCF-7	breast:
4	chr3:42700054..42702957-chr3:42774515..42776215,2	K562	blood:
5	chr3:42702499..42703079-chr3:42785442..42785986,2	MCF-7	breast:
6	chr3:42695218..42698513-chr3:42700428..42704457,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230084	Chromatin interaction
ENSG00000244607	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17238972	1.00[ASN][1000 genomes]
rs6865	1.00[ASN][1000 genomes]
rs73075297	1.00[ASN][1000 genomes]
rs73075301	1.00[ASN][1000 genomes]
rs73077208	1.00[ASN][1000 genomes]
rs73077214	1.00[ASN][1000 genomes]
rs73077238	1.00[ASN][1000 genomes]
rs73087348	1.00[ASN][1000 genomes]
rs735320	1.00[ASN][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	nsv1002944	chr3:42559762-42728909	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv1818302	chr3:42688867-42709062	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv876731	chr3:42690285-42711655	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42697200-42703000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr3:42697200-42704600	Weak transcription	Primary B cells from cord blood	blood
3	chr3:42697400-42703000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:42697400-42706800	Weak transcription	HMEC	breast
5	chr3:42697400-42708800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr3:42697400-42708800	Weak transcription	Fetal Lung	lung
7	chr3:42697600-42703400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:42697600-42704600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:42697600-42704800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:42697600-42707000	Weak transcription	A549	lung
11	chr3:42697600-42708000	Weak transcription	Colonic Mucosa	Colon
12	chr3:42697600-42709800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr3:42697800-42707200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:42697800-42707600	Strong transcription	Fetal Intestine Small	intestine
15	chr3:42697800-42707800	Weak transcription	Psoas Muscle	Psoas
16	chr3:42697800-42709400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr3:42698000-42706400	Strong transcription	Fetal Stomach	stomach
18	chr3:42698200-42706600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:42698200-42708000	Weak transcription	HSMM	muscle
20	chr3:42698200-42708400	Weak transcription	HUVEC	blood vessel
21	chr3:42698400-42703800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:42698400-42704000	Genic enhancers	Right Ventricle	heart
23	chr3:42698600-42703200	Genic enhancers	Stomach Smooth Muscle	stomach
24	chr3:42698800-42703400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:42699400-42703200	Enhancers	Fetal Heart	heart
26	chr3:42699400-42703400	Strong transcription	NHEK	skin
27	chr3:42699800-42703800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
28	chr3:42699800-42704800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:42699800-42705000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:42699800-42705600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
31	chr3:42699800-42706800	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr3:42700000-42707000	Weak transcription	HepG2	liver
33	chr3:42700200-42704600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:42700200-42705800	Strong transcription	Lung	lung
35	chr3:42700400-42703800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:42700400-42705000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:42700800-42705600	Weak transcription	Ovary	ovary
38	chr3:42700800-42707600	Weak transcription	Adipose Nuclei	Adipose
39	chr3:42701200-42705800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:42701400-42703000	Strong transcription	Fetal Muscle Leg	muscle
41	chr3:42701400-42703800	Strong transcription	Placenta	Placenta
42	chr3:42701400-42704400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr3:42701400-42704600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr3:42701400-42706200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr3:42701400-42708800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr3:42701600-42704000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr3:42701600-42706600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr3:42701600-42706600	Strong transcription	NHLF	lung
49	chr3:42701600-42706800	Weak transcription	Pancreas	Pancrea
50	chr3:42701600-42709000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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