Variant report

Variant	rs60274160
Chromosome Location	chr7:99960584-99960585
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:99959155-99960895	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr7:99960258-99960826	GM12892	blood:	n/a	n/a
3	PML	chr7:99960386-99961549	K562	blood:	n/a	n/a
4	POLR2A	chr7:99958725-99960730	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:99959279-99970406	K562	blood:	n/a	n/a
6	POLR2A	chr7:99958998-99960899	A549	lung:	n/a	n/a
7	POLR2A	chr7:99960326-99960667	GM12892	blood:	n/a	n/a
8	POLR2A	chr7:99960308-99960698	GM12891	blood:	n/a	n/a
9	POLR2A	chr7:99960346-99960600	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:99960318-99960627	GM12891	blood:	n/a	n/a
11	POLR2A	chr7:99958772-99960761	K562	blood:	n/a	n/a
12	POLR2A	chr7:99960071-99960715	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr7:99960154-99960729	K562	blood:	n/a	n/a
14	POLR2A	chr7:99960533-99960766	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr7:99960022-99960703	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:99944424..99947012-chr7:99956430..99960852,3	K562	blood:
2	chr7:99959399..99961103-chr7:100026312..100027902,2	K562	blood:
3	chr7:99945120..99946950-chr7:99959352..99960868,2	K562	blood:

No data

Variant related genes	Relation type
PILRA	TF binding region
ENSG00000078487	Chromatin interaction
ENSG00000146834	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10255133	0.96[ASN][1000 genomes]
rs13236234	0.99[ASN][1000 genomes]
rs13246354	0.97[ASN][1000 genomes]
rs3807475	0.87[ASN][1000 genomes]
rs5015755	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers 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 miRNA target site	51 gene(s)	inside rSNPs	diseases
4	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
5	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases
6	nsv888775	chr7:99940307-99961194	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 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	chr7:99934000-99977600	Weak transcription	Fetal Brain Male	brain
2	chr7:99934400-99963400	Weak transcription	Psoas Muscle	Psoas
3	chr7:99934800-99963800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:99935400-99962200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:99935400-99962400	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:99937600-99967800	Strong transcription	Fetal Stomach	stomach
7	chr7:99938600-99967400	Strong transcription	Fetal Brain Female	brain
8	chr7:99938800-99962400	Strong transcription	Dnd41	blood
9	chr7:99940800-100014600	Weak transcription	Right Atrium	heart
10	chr7:99942600-99960800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:99942800-99963600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:99942800-99966400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:99942800-99966400	Strong transcription	A549	lung
14	chr7:99942800-99967000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:99942800-99967400	Strong transcription	Fetal Intestine Small	intestine
16	chr7:99943200-99962000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:99943200-99962600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:99943200-99965400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:99943400-99960600	Strong transcription	Brain Angular Gyrus	brain
20	chr7:99943400-99961400	Strong transcription	Liver	Liver
21	chr7:99943400-99961600	Strong transcription	HepG2	liver
22	chr7:99943400-99962400	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr7:99943400-99963200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:99943400-99963200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:99943400-99966800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:99943400-99967200	Strong transcription	Fetal Intestine Large	intestine
27	chr7:99943600-99962200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:99943600-99962400	Strong transcription	Brain Hippocampus Middle	brain
29	chr7:99943600-99962400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr7:99943600-99962400	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr7:99943800-99960600	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr7:99943800-99960800	Strong transcription	Left Ventricle	heart
33	chr7:99943800-99962400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:99943800-99962600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:99943800-99963200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:99943800-99963800	Strong transcription	Placenta	Placenta
37	chr7:99944000-99961400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr7:99944000-99961600	Strong transcription	Stomach Smooth Muscle	stomach
39	chr7:99944000-99962400	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr7:99944000-99967000	Strong transcription	Brain Anterior Caudate	brain
41	chr7:99944200-99961400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:99944200-99961600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:99944200-99967400	Strong transcription	Brain Germinal Matrix	brain
44	chr7:99945400-99961400	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr7:99945400-99969400	Weak transcription	Fetal Heart	heart
46	chr7:99945600-99966000	Strong transcription	Fetal Muscle Leg	muscle
47	chr7:99946000-99961400	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr7:99946000-99966800	Strong transcription	Fetal Muscle Trunk	muscle
49	chr7:99946400-99967400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr7:99946600-99960800	Strong transcription	Sigmoid Colon	Sigmoid Colon

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