Variant report

Variant	rs34379671
Chromosome Location	chr3:49737660-49737661
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:49737257-49737835	GM12878	blood:	n/a	n/a
2	POLR2A	chr3:49737607-49738004	K562	blood:	n/a	n/a
3	POLR2A	chr3:49737276-49737662	HepG2	liver:	n/a	n/a
4	POLR2A	chr3:49737243-49737669	K562	blood:	n/a	n/a
5	POLR2A	chr3:49737517-49737684	Hela-S3	cervix:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49709585..49712525-chr3:49736619..49738353,2	K562	blood:
2	chr3:49737567..49739735-chr3:49821150..49823977,2	MCF-7	breast:
3	chr3:49735446..49741255-chr3:49749875..49755830,7	K562	blood:
4	chr3:49736056..49738615-chr3:49750804..49752960,2	K562	blood:
5	chr3:49711656..49713849-chr3:49736490..49739042,2	MCF-7	breast:
6	chr3:49724739..49727802-chr3:49735823..49739048,3	MCF-7	breast:

No data

Variant related genes	Relation type
RNF123	TF binding region
ENSG00000164062	Chromatin interaction
ENSG00000164068	Chromatin interaction
ENSG00000173531	Chromatin interaction
ENSG00000176095	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs34630302	1.00[AMR][1000 genomes]
rs35481257	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6772424	1.00[AMR][1000 genomes]
rs6777731	1.00[AMR][1000 genomes]
rs6797615	1.00[AMR][1000 genomes]
rs6800591	1.00[AMR][1000 genomes]
rs6806073	1.00[AMR][1000 genomes]
rs6808633	1.00[AMR][1000 genomes]
rs72938200	1.00[AMR][1000 genomes]
rs7615240	1.00[AMR][1000 genomes]
rs7616171	1.00[AMR][1000 genomes]
rs7623582	1.00[AMR][1000 genomes]
rs7626820	1.00[AMR][1000 genomes]
rs7633189	1.00[AMR][1000 genomes]
rs7634945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7636222	1.00[AMR][1000 genomes]
rs7637266	1.00[AMR][1000 genomes]
rs7641976	1.00[AMR][1000 genomes]
rs7648632	1.00[AMR][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	esv1808511	chr3:49689880-49744825	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 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	chr3:49727800-49740000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:49727800-49742200	Weak transcription	Small Intestine	intestine
3	chr3:49728000-49738400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:49728000-49738600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr3:49728000-49738600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:49728000-49739200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:49728000-49739200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:49728000-49739400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:49728000-49742600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:49728000-49744400	Weak transcription	NH-A	brain
11	chr3:49728000-49748800	Weak transcription	A549	lung
12	chr3:49728400-49753200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:49728400-49756600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:49728600-49739400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr3:49728600-49744800	Weak transcription	HMEC	breast
16	chr3:49728600-49750400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr3:49729200-49738200	Weak transcription	Hela-S3	cervix
18	chr3:49729200-49749800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr3:49729200-49750200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr3:49729200-49755800	Weak transcription	Right Atrium	heart
21	chr3:49729400-49750200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr3:49731800-49740800	Strong transcription	Fetal Stomach	stomach
23	chr3:49732200-49755000	Strong transcription	Fetal Intestine Small	intestine
24	chr3:49732400-49739000	Enhancers	Fetal Heart	heart
25	chr3:49733000-49750200	Weak transcription	Psoas Muscle	Psoas
26	chr3:49734200-49746000	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr3:49734200-49746000	Strong transcription	Thymus	Thymus
28	chr3:49734200-49746200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr3:49734400-49740400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr3:49734400-49740600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr3:49734400-49740800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr3:49734400-49741200	Strong transcription	Spleen	Spleen
33	chr3:49734400-49744000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:49734400-49744000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:49734400-49744200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:49734400-49744400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr3:49734400-49744800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:49734400-49744800	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr3:49734400-49745000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:49734400-49745200	Strong transcription	Fetal Brain Female	brain
41	chr3:49734400-49745400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr3:49734400-49745400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:49734400-49746000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:49734400-49746000	Strong transcription	Fetal Intestine Large	intestine
45	chr3:49734400-49746200	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr3:49734400-49746200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr3:49734400-49746200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr3:49734400-49746400	Strong transcription	Brain Hippocampus Middle	brain
49	chr3:49734400-49756000	Strong transcription	Liver	Liver
50	chr3:49734600-49738000	Strong transcription	Colonic Mucosa	Colon

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