Variant report

Variant	rs35313525
Chromosome Location	chr5:43603710-43603711
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:116)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:116 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:43602342-43604392	HUVEC	blood vessel:	n/a	n/a
2	ELF1	chr5:43602744-43604408	GM12878	blood:	n/a	chr5:43603385-43603397
3	RCOR1	chr5:43603572-43603851	K562	blood:	n/a	n/a
4	POLR2A	chr5:43602408-43603747	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr5:43602029-43604259	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr5:43602018-43604302	GM12878	blood:	n/a	n/a
7	MYC	chr5:43602468-43604315	NB4	blood:	n/a	n/a
8	RUNX3	chr5:43602789-43604393	GM12878	blood:	n/a	chr5:43603568-43603583
9	POLR2A	chr5:43603043-43604398	MCF-7	breast:	n/a	n/a
10	HMGN3	chr5:43602756-43603803	K562	blood:	n/a	n/a
11	MAX	chr5:43602028-43604337	NB4	blood:	n/a	n/a
12	POLR2A	chr5:43602032-43604360	GM12892	blood:	n/a	n/a
13	TAF1	chr5:43602732-43603718	H1-neurons	neurons:	n/a	n/a
14	BCLAF1	chr5:43602779-43603844	GM12878	blood:	n/a	n/a
15	MAX	chr5:43602385-43604222	K562	blood:	n/a	n/a
16	ZNF143	chr5:43603664-43604127	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr5:43602413-43604267	GM12892	blood:	n/a	n/a
18	POLR2A	chr5:43602398-43604433	HL-60	blood:	n/a	n/a
19	SIN3A	chr5:43602872-43604309	GM12878	blood:	n/a	n/a
20	E2F4	chr5:43602705-43603828	K562	blood:	n/a	chr5:43603207-43603218 chr5:43603190-43603201 chr5:43602755-43602767
21	POLR2A	chr5:43603017-43604351	MCF-7	breast:	n/a	n/a
22	HEY1	chr5:43602396-43604049	K562	blood:	n/a	chr5:43603422-43603437 chr5:43603438-43603453 chr5:43603484-43603499
23	POLR2A	chr5:43602428-43603996	K562	blood:	n/a	n/a
24	POLR2A	chr5:43602425-43604573	HL-60	blood:	n/a	n/a
25	RFX5	chr5:43601979-43604323	Hela-S3	cervix:	n/a	chr5:43604078-43604087
26	MAZ	chr5:43602007-43604155	K562	blood:	n/a	n/a
27	POLR2A	chr5:43602943-43604379	MCF-7	breast:	n/a	n/a
28	MYC	chr5:43603022-43603719	MCF-7	breast:	n/a	n/a
29	TCF7L2	chr5:43602487-43603779	Hela-S3	cervix:	n/a	n/a
30	MXI1	chr5:43601361-43604702	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr5:43601886-43604310	GM12878	blood:	n/a	n/a
32	MAX	chr5:43602617-43603817	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr5:43602616-43603846	MCF-7	breast:	n/a	n/a
34	MXI1	chr5:43601813-43604468	IMR90	lung:	n/a	n/a
35	MYC	chr5:43602482-43603727	K562	blood:	n/a	n/a
36	POLR2A	chr5:43602382-43604481	GM12878	blood:	n/a	n/a
37	POLR2A	chr5:43602608-43604290	GM10847	blood:	n/a	n/a
38	POLR2A	chr5:43602608-43604443	K562	blood:	n/a	n/a
39	TBL1XR1	chr5:43602232-43603734	GM12878	blood:	n/a	n/a
40	POLR2A	chr5:43601945-43604329	GM12891	blood:	n/a	n/a
41	CHD2	chr5:43602987-43603847	HepG2	liver:	n/a	n/a
42	TFAP2C	chr5:43602404-43604282	Hela-S3	cervix:	n/a	chr5:43603351-43603366
43	POLR2A	chr5:43602557-43604377	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr5:43602053-43604374	GM18951	blood:	n/a	n/a
45	CBX3	chr5:43602804-43603995	K562	blood:	n/a	n/a
46	POLR2A	chr5:43602857-43604282	GM12878	blood:	n/a	n/a
47	ZBTB7A	chr5:43602933-43603868	K562	blood:	n/a	n/a
48	CTBP2	chr5:43602701-43604360	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr5:43602473-43604347	GM12878	blood:	n/a	n/a
50	MTA3	chr5:43601858-43604547	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:48901590..48902104-chr5:43603561..43604094,2	Hela-S3	cervix:
2	chr5:43554854..43559895-chr5:43599481..43606699,15	MCF-7	breast:
3	chr5:43482042..43485833-chr5:43601604..43604541,3	MCF-7	breast:
4	chr11:62495238..62495932-chr5:43603022..43603819,2	Hela-S3	cervix:
5	chr5:43512794..43515547-chr5:43602190..43604500,3	MCF-7	breast:
6	chr5:43555487..43559521-chr5:43598404..43605405,16	K562	blood:
7	chr5:43552832..43560830-chr5:43598877..43605844,26	MCF-7	breast:
8	chr5:375088..376007-chr5:43603703..43604323,2	NB4	blood:
9	chr5:43481246..43484731-chr5:43603166..43606245,4	K562	blood:
10	chr5:43482483..43486113-chr5:43601084..43606081,7	K562	blood:
11	chr5:43601763..43605743-chr5:43610640..43615837,7	K562	blood:
12	chr5:43475458..43478438-chr5:43602364..43603986,2	K562	blood:
13	chr5:43601796..43604385-chr5:44808876..44810396,2	K562	blood:
14	chr5:43555382..43559666-chr5:43598979..43604929,17	K562	blood:

No data

Variant related genes	Relation type
NNT-AS1	TF binding region
ENSG00000112992	Chromatin interaction
ENSG00000112996	Chromatin interaction
ENSG00000251141	Chromatin interaction
ENSG00000248240	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000151881	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13155312	1.00[AMR][1000 genomes]
rs6895866	1.00[GIH][hapmap]
rs966965	1.00[GIH][hapmap]

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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43600800-43604800	Active TSS	Psoas Muscle	Psoas
2	chr5:43600800-43605200	Active TSS	Right Atrium	heart
3	chr5:43601600-43604400	Active TSS	GM12878-XiMat	blood
4	chr5:43601600-43604600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr5:43601800-43603800	Active TSS	Fetal Muscle Trunk	muscle
6	chr5:43601800-43604000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:43601800-43604000	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr5:43601800-43604200	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr5:43601800-43604400	Active TSS	Brain Hippocampus Middle	brain
10	chr5:43601800-43604600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:43601800-43604600	Active TSS	Fetal Brain Female	brain
12	chr5:43601800-43604800	Active TSS	Left Ventricle	heart
13	chr5:43602000-43603800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:43602000-43603800	Active TSS	Stomach Smooth Muscle	stomach
15	chr5:43602000-43604400	Active TSS	Fetal Heart	heart
16	chr5:43602000-43604600	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr5:43602000-43604600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:43602000-43604600	Active TSS	Aorta	Aorta
19	chr5:43602000-43604800	Active TSS	Right Ventricle	heart
20	chr5:43602200-43603800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:43602200-43603800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:43602200-43603800	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr5:43602200-43604000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:43602200-43604000	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr5:43602200-43604200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:43602200-43604200	Active TSS	Brain Angular Gyrus	brain
27	chr5:43602200-43604200	Active TSS	Brain Anterior Caudate	brain
28	chr5:43602200-43604200	Active TSS	Colon Smooth Muscle	Colon
29	chr5:43602200-43604200	Active TSS	Fetal Intestine Small	intestine
30	chr5:43602200-43604200	Active TSS	HSMMtube	muscle
31	chr5:43602200-43604400	Active TSS	Placenta Amnion	Placenta Amnion
32	chr5:43602200-43604600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:43602200-43604600	Active TSS	Fetal Stomach	stomach
34	chr5:43602400-43604200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:43602400-43604200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:43602400-43604200	Active TSS	Gastric	stomach
37	chr5:43602400-43604400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr5:43602400-43604400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:43602400-43604400	Active TSS	Fetal Lung	lung
40	chr5:43602400-43604400	Active TSS	Ovary	ovary
41	chr5:43602400-43604400	Active TSS	Pancreas	Pancrea
42	chr5:43602400-43604600	Active TSS	H9 Cell Line	embryonic stem cell
43	chr5:43602400-43604600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:43602400-43604600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr5:43602400-43604600	Active TSS	Colonic Mucosa	Colon
46	chr5:43602400-43604800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:43602600-43603800	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr5:43602600-43603800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr5:43602600-43603800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr5:43602600-43604000	Active TSS	Esophagus	oesophagus

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