Variant report

Variant	rs73077157
Chromosome Location	chr3:49749705-49749706
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:49749013-49751742	HepG2	liver:	n/a	n/a
2	POLR2A	chr3:49749473-49752036	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49747446..49749847-chr3:49755435..49757551,2	MCF-7	breast:

Variant related genes	Relation type
RNF123	TF binding region
ENSG00000164068	Chromatin interaction
ENSG00000176020	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs34484573	1.00[ASN][1000 genomes]
rs35441946	1.00[ASN][1000 genomes]
rs35917071	1.00[ASN][1000 genomes]
rs4395393	1.00[ASN][1000 genomes]
rs67070774	1.00[ASN][1000 genomes]
rs71325001	1.00[ASN][1000 genomes]
rs73073005	1.00[ASN][1000 genomes]
rs73073007	1.00[ASN][1000 genomes]
rs73074830	1.00[ASN][1000 genomes]
rs73074855	1.00[ASN][1000 genomes]
rs73077107	1.00[ASN][1000 genomes]
rs73079003	1.00[ASN][1000 genomes]
rs73079014	1.00[ASN][1000 genomes]
rs73088161	1.00[ASN][1000 genomes]
rs7638643	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508217	chr3:49615446-49769896	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv1825898	chr3:49688948-49764849	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	esv1796605	chr3:49744556-49760567	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49728400-49753200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr3:49728400-49756600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:49728600-49750400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr3:49729200-49749800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr3:49729200-49750200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr3:49729200-49755800	Weak transcription	Right Atrium	heart
7	chr3:49729400-49750200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:49732200-49755000	Strong transcription	Fetal Intestine Small	intestine
9	chr3:49733000-49750200	Weak transcription	Psoas Muscle	Psoas
10	chr3:49734400-49756000	Strong transcription	Liver	Liver
11	chr3:49735400-49755400	Weak transcription	Stomach Mucosa	stomach
12	chr3:49736000-49749800	Weak transcription	GM12878-XiMat	blood
13	chr3:49736000-49753000	Weak transcription	K562	blood
14	chr3:49736800-49756400	Weak transcription	HSMM	muscle
15	chr3:49739000-49752000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:49739000-49756400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:49739200-49753200	Weak transcription	Colon Smooth Muscle	Colon
18	chr3:49740000-49755600	Weak transcription	Fetal Brain Male	brain
19	chr3:49740200-49756000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:49740200-49756600	Weak transcription	HSMMtube	muscle
21	chr3:49740400-49755000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:49740600-49759800	Weak transcription	Hela-S3	cervix
23	chr3:49740800-49756400	Weak transcription	Osteobl	bone
24	chr3:49741400-49755200	Strong transcription	Placenta	Placenta
25	chr3:49741800-49755600	Weak transcription	HUVEC	blood vessel
26	chr3:49742200-49750000	Weak transcription	Fetal Lung	lung
27	chr3:49742600-49756200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:49743000-49750200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr3:49743000-49756400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:49743000-49756800	Weak transcription	Small Intestine	intestine
31	chr3:49743200-49751400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr3:49743400-49756200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:49743600-49753200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:49743600-49753200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:49743800-49751400	Weak transcription	NHLF	lung
36	chr3:49743800-49755800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr3:49744000-49750200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr3:49744000-49750400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr3:49744000-49752800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:49744000-49755400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr3:49744000-49756400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:49744200-49752800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr3:49744200-49753200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:49744400-49750200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr3:49744600-49750000	Weak transcription	Brain Angular Gyrus	brain
46	chr3:49744600-49750400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr3:49744800-49749800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:49744800-49749800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr3:49744800-49750200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr3:49744800-49750200	Weak transcription	Brain Cingulate Gyrus	brain

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