Variant report

Variant	rs335431
Chromosome Location	chr5:176920144-176920145
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:176919037-176923987	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr5:176919701-176920450	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr5:176919747-176920555	K562	blood:	n/a	n/a
4	HEY1	chr5:176920090-176920629	K562	blood:	n/a	n/a
5	POLR2A	chr5:176919522-176925218	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:176919767-176920468	GM12891	blood:	n/a	n/a
7	POLR2A	chr5:176919955-176920225	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr5:176919141-176926267	K562	blood:	n/a	n/a
9	MAZ	chr5:176919747-176925761	IMR90	lung:	n/a	chr5:176921985-176921995 chr5:176921861-176921871 chr5:176922286-176922295
10	POLR2A	chr5:176919375-176920776	K562	blood:	n/a	n/a
11	POLR2A	chr5:176919322-176920604	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr5:176919463-176925374	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr5:176919968-176920290	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr5:176918995-176926109	K562	blood:	n/a	n/a
15	POLR2A	chr5:176919716-176920604	IMR90	lung:	n/a	n/a
16	POLR2A	chr5:176919610-176920794	GM12891	blood:	n/a	n/a
17	POLR2A	chr5:176919685-176920695	U87	brain:	n/a	n/a
18	POLR2A	chr5:176919581-176923206	K562	blood:	n/a	n/a
19	POLR2A	chr5:176919048-176925643	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr5:176919870-176920839	MCF10A-Er-Src	breast:	n/a	n/a
21	ZBTB7A	chr5:176920129-176920307	K562	blood:	n/a	n/a
22	POLR2A	chr5:176919040-176925033	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr5:176919035-176922481	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr5:176919912-176920221	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr5:176919821-176920605	HepG2	liver:	n/a	n/a
26	POLR2A	chr5:176919601-176920758	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr5:176920098-176920168	ProgFib	skin:	n/a	n/a
28	POLR2A	chr5:176919627-176920504	SK-N-MC	brain:	n/a	n/a
29	POLR2A	chr5:176919063-176920698	GM12878	blood:	n/a	n/a
30	POLR2A	chr5:176917877-176925482	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr5:176919866-176920576	HepG2	liver:	n/a	n/a
32	POLR2A	chr5:176919503-176922244	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr5:176919309-176925665	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr5:176920078-176920954	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr5:176915763-176926210	K562	blood:	n/a	n/a
36	POLR2A	chr5:176919633-176925489	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr5:176919401-176920726	GM12892	blood:	n/a	n/a
38	POLR2A	chr5:176919017-176920735	U87	brain:	n/a	n/a
39	POLR2A	chr5:176919626-176925142	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr5:176919425-176920623	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr5:176919366-176920622	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr5:176919022-176921516	GM12892	blood:	n/a	n/a
43	POLR2A	chr5:176919431-176920769	GM12892	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:176918624..176922037-chr5:177026653..177029036,4	MCF-7	breast:
2	chr5:176776307..176779047-chr5:176918951..176920707,2	K562	blood:
3	chr5:176736901..176740398-chr5:176920138..176924378,4	MCF-7	breast:

No data

Variant related genes	Relation type
PDLIM7	TF binding region
ENSG00000248996	TF binding region
ENSG00000169223	Chromatin interaction
ENSG00000213347	Chromatin interaction
ENSG00000027847	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs234376	0.98[EUR][1000 genomes]
rs2544814	0.89[CEU][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs2630759	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs335428	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs335429	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs335462	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs337366	0.81[EUR][1000 genomes]
rs337368	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs337370	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs96656	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv883158	chr5:176726635-176931706	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
3	nsv883160	chr5:176740996-176952919	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
5	nsv883161	chr5:176754722-176958397	Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
6	nsv1020334	chr5:176779108-176954933	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
7	nsv883164	chr5:176780545-177003616	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription 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	116 gene(s)	inside rSNPs	diseases
8	esv1816147	chr5:176787037-176966509	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
9	nsv883166	chr5:176817636-176940384	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers 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 target site	108 gene(s)	inside rSNPs	diseases
10	nsv883170	chr5:176824137-176952919	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
11	nsv883173	chr5:176842474-176931706	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
12	nsv883174	chr5:176842474-176940384	Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Weak transcription 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	100 gene(s)	inside rSNPs	diseases
13	nsv883175	chr5:176842474-176952919	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
14	nsv883176	chr5:176843297-176924175	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
15	nsv1030965	chr5:176851182-176937654	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
16	nsv1026103	chr5:176851182-176942552	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
17	nsv1022832	chr5:176861503-176937654	Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
18	nsv1018088	chr5:176861503-176942552	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
19	nsv1028123	chr5:176861503-176949149	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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 target site	83 gene(s)	inside rSNPs	diseases
20	nsv537965	chr5:176861503-176949149	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
21	nsv883177	chr5:176868358-177003616	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
22	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
23	nsv883179	chr5:176912073-176926674	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
24	nsv883180	chr5:176912073-176937177	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
25	esv3399333	chr5:176917771-176920319	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs335431	PDLIM7	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:176901600-176923000	Weak transcription	Brain Angular Gyrus	brain
2	chr5:176902400-176920200	Weak transcription	Fetal Brain Male	brain
3	chr5:176907000-176921000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr5:176907200-176921000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr5:176907200-176921000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:176907200-176921200	Weak transcription	Small Intestine	intestine
7	chr5:176907200-176921800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:176908600-176920800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:176908600-176921000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:176908600-176921000	Strong transcription	Fetal Intestine Small	intestine
11	chr5:176908800-176920200	Strong transcription	Fetal Lung	lung
12	chr5:176908800-176920200	Strong transcription	NHEK	skin
13	chr5:176910000-176920800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:176910200-176921200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:176910400-176920600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:176911000-176923000	Weak transcription	Dnd41	blood
17	chr5:176911200-176920400	Weak transcription	Fetal Thymus	thymus
18	chr5:176911400-176920400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr5:176913000-176920600	Strong transcription	Ovary	ovary
20	chr5:176913000-176922400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr5:176914400-176921400	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr5:176914800-176920800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:176914800-176921000	Weak transcription	GM12878-XiMat	blood
24	chr5:176914800-176922800	Weak transcription	Fetal Kidney	kidney
25	chr5:176914800-176923600	Weak transcription	Pancreas	Pancrea
26	chr5:176915000-176920200	Weak transcription	Hela-S3	cervix
27	chr5:176915400-176921200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr5:176916000-176920400	Strong transcription	Thymus	Thymus
29	chr5:176916000-176921800	Genic enhancers	Fetal Muscle Leg	muscle
30	chr5:176916200-176921200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:176916400-176921200	Genic enhancers	Fetal Stomach	stomach
32	chr5:176916400-176921800	Genic enhancers	Placenta	Placenta
33	chr5:176916400-176922000	Weak transcription	Liver	Liver
34	chr5:176916600-176921600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:176916600-176922200	Enhancers	Fetal Heart	heart
36	chr5:176916600-176923200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:176916800-176923800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
38	chr5:176917000-176920400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr5:176917000-176920800	Genic enhancers	HUVEC	blood vessel
40	chr5:176917000-176922000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
41	chr5:176917000-176922800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:176917200-176920400	Weak transcription	HepG2	liver
43	chr5:176917200-176921200	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:176917400-176921400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:176917600-176920400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:176917600-176921200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:176917600-176922000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
48	chr5:176917800-176920200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:176917800-176921000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:176917800-176921000	Genic enhancers	HSMM	muscle

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