Variant report

Variant	rs34852912
Chromosome Location	chr5:34834918-34834919
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:34834420-34835671	HUVEC	blood vessel:	n/a	n/a
2	CBX3	chr5:34834588-34834984	K562	blood:	n/a	n/a
3	POLR2A	chr5:34834719-34835572	U87	brain:	n/a	n/a
4	POLR2A	chr5:34834763-34835530	U87	brain:	n/a	n/a
5	POLR2A	chr5:34834899-34835205	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:34833691-34835481	K562	blood:	n/a	n/a
7	POLR2A	chr5:34834068-34836098	A549	lung:	n/a	n/a
8	POLR2A	chr5:34834780-34836061	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr5:34834010-34835172	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:34834869-34837491	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr5:34834903-34835165	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr5:34834168-34835645	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr5:34833910-34835600	H1-hESC	embryonic stem cell:	n/a	n/a
14	KAP1	chr5:34834439-34835305	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:34833246..34835416-chr5:34838137..34840359,2	MCF-7	breast:
2	chr5:34834049..34836496-chr5:34837825..34840658,3	MCF-7	breast:
3	chr5:34828662..34832038-chr5:34833106..34836062,3	K562	blood:

No data

Variant related genes	Relation type
TTC23L	TF binding region
ENSG00000205838	Chromatin interaction
ENSG00000272323	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1115964	1.00[ASN][1000 genomes]
rs34045860	1.00[AFR][1000 genomes]
rs34349127	1.00[ASN][1000 genomes]
rs34531945	1.00[ASN][1000 genomes]
rs55687280	1.00[ASN][1000 genomes]
rs72732874	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	nsv522144	chr5:34778371-34898304	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1015535	chr5:34798601-34981782	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
3	nsv1021593	chr5:34798601-34983146	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:34790400-34838400	Weak transcription	Brain Angular Gyrus	brain
2	chr5:34795400-34838600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:34812200-34835200	Strong transcription	Muscle Satellite Cultured Cells	--
4	chr5:34813000-34838800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:34818000-34836000	Strong transcription	HSMM	muscle
6	chr5:34820000-34838800	Weak transcription	Right Ventricle	heart
7	chr5:34821600-34837600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:34822200-34838600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:34823200-34835800	Strong transcription	A549	lung
10	chr5:34823800-34838600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:34824400-34838600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:34825000-34838800	Weak transcription	Colonic Mucosa	Colon
13	chr5:34825200-34838800	Weak transcription	Esophagus	oesophagus
14	chr5:34826400-34838400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:34827600-34838800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:34827800-34837800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:34827800-34838400	Weak transcription	Fetal Heart	heart
18	chr5:34828000-34838400	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:34828000-34838600	Weak transcription	Adipose Nuclei	Adipose
20	chr5:34828200-34838600	Weak transcription	Fetal Brain Male	brain
21	chr5:34828200-34838600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr5:34828600-34838800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:34828800-34838800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:34829000-34838600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:34830200-34838400	Weak transcription	Brain Anterior Caudate	brain
26	chr5:34830400-34838600	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:34831000-34838400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:34831000-34838600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:34831000-34838600	Weak transcription	Fetal Intestine Large	intestine
30	chr5:34831000-34838600	Weak transcription	NHEK	skin
31	chr5:34831200-34837200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:34831200-34838400	Weak transcription	Fetal Brain Female	brain
33	chr5:34831200-34838400	Weak transcription	Fetal Intestine Small	intestine
34	chr5:34831200-34838400	Weak transcription	Spleen	Spleen
35	chr5:34831200-34838600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:34831200-34838600	Weak transcription	Fetal Muscle Leg	muscle
37	chr5:34831200-34838600	Weak transcription	Pancreas	Pancrea
38	chr5:34831200-34838800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:34831200-34838800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:34831200-34838800	Weak transcription	Gastric	stomach
41	chr5:34831200-34838800	Weak transcription	Left Ventricle	heart
42	chr5:34831200-34839000	Weak transcription	Lung	lung
43	chr5:34831400-34838800	Weak transcription	NHLF	lung
44	chr5:34831600-34838600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:34831600-34838600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr5:34831800-34838600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr5:34832400-34838400	Weak transcription	Brain Germinal Matrix	brain
48	chr5:34832400-34838600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr5:34832400-34838600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr5:34832400-34838800	Weak transcription	Aorta	Aorta

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