Variant report

Variant	rs13172893
Chromosome Location	chr5:179197403-179197404
allele	A/G
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	chr5:179195668-179198597	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179190822..179197512-chr5:179244986..179249382,7	K562	blood:
2	chr5:179196020..179197613-chr5:179249458..179251235,2	K562	blood:

Variant related genes	Relation type
MAML1	TF binding region
ENSG00000161011	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1019443	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10447303	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10447304	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10516146	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10794700	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10903245	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11744662	0.89[EUR][1000 genomes]
rs12374446	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12374485	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12522926	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13174472	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13184690	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34329357	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34785307	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35320050	0.86[EUR][1000 genomes]
rs3797774	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56227602	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56807514	0.84[EUR][1000 genomes]
rs62404348	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62406180	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6601073	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7736300	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv518964	chr5:179193598-179227286	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
7	nsv883275	chr5:179193598-179267783	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv883276	chr5:179193598-179310330	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS 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 miRNA target site	178 gene(s)	inside rSNPs	diseases
9	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13172893	HNRPH1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179190800-179207600	Strong transcription	Dnd41	blood
2	chr5:179191000-179203000	Weak transcription	Psoas Muscle	Psoas
3	chr5:179191200-179210400	Strong transcription	Thymus	Thymus
4	chr5:179192000-179200000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr5:179192000-179202000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:179192000-179207800	Strong transcription	Fetal Thymus	thymus
7	chr5:179192200-179200000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
8	chr5:179192200-179206200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:179192200-179206200	Strong transcription	Primary B cells from peripheral blood	blood
10	chr5:179192200-179206400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:179192200-179206400	Strong transcription	HepG2	liver
12	chr5:179192200-179207600	Strong transcription	Fetal Lung	lung
13	chr5:179192200-179207800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr5:179192200-179208000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:179192200-179210400	Strong transcription	Brain Germinal Matrix	brain
16	chr5:179192400-179203600	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr5:179192400-179205400	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:179192400-179206200	Strong transcription	GM12878-XiMat	blood
19	chr5:179192400-179207600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:179192400-179207600	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr5:179192600-179209800	Strong transcription	Primary T cells from cord blood	blood
22	chr5:179192800-179205200	Strong transcription	Rectal Smooth Muscle	rectum
23	chr5:179192800-179207200	Strong transcription	Fetal Muscle Leg	muscle
24	chr5:179192800-179209800	Strong transcription	Fetal Brain Female	brain
25	chr5:179193000-179198200	Weak transcription	Stomach Mucosa	stomach
26	chr5:179193000-179210400	Strong transcription	Fetal Stomach	stomach
27	chr5:179193400-179207600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:179193400-179207800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:179193400-179208000	Strong transcription	Lung	lung
30	chr5:179193600-179200600	Genic enhancers	Monocytes-CD14+_RO01746	blood
31	chr5:179193600-179203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr5:179193600-179204600	Strong transcription	Placenta	Placenta
33	chr5:179193600-179206000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:179193600-179206800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr5:179193600-179207600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:179193600-179207600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:179193600-179209600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:179193800-179198200	Weak transcription	Aorta	Aorta
39	chr5:179193800-179198400	Weak transcription	Small Intestine	intestine
40	chr5:179193800-179198800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:179193800-179204000	Strong transcription	Left Ventricle	heart
42	chr5:179193800-179204000	Strong transcription	HSMM	muscle
43	chr5:179193800-179206200	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr5:179193800-179206200	Strong transcription	HSMMtube	muscle
45	chr5:179193800-179207000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr5:179193800-179207400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:179193800-179207600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:179193800-179207800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr5:179193800-179207800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr5:179193800-179207800	Strong transcription	Rectal Mucosa Donor 29	rectum

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