Variant report

Variant	rs34313920
Chromosome Location	chr7:99943280-99943281
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:99943180-99943330	GM12870	blood:	n/a	n/a
2	CTCF	chr7:99942782-99943285	K562	blood:	n/a	n/a
3	CTCF	chr7:99942660-99943302	A549	lung:	n/a	n/a
4	FOXM1	chr7:99941871-99943308	GM12878	blood:	n/a	n/a
5	IRF4	chr7:99941941-99943314	GM12878	blood:	n/a	n/a
6	CTCF	chr7:99942097-99943292	GM12878	blood:	n/a	chr7:99942212-99942221 chr7:99942256-99942274 chr7:99942258-99942271 chr7:99942206-99942224
7	CTCF	chr7:99942919-99943287	IMR90	lung:	n/a	n/a
8	NR2F2	chr7:99941819-99943282	K562	blood:	n/a	n/a
9	CTCF	chr7:99942984-99943287	A549	lung:	n/a	n/a
10	RAD21	chr7:99942989-99943390	SK-N-SH	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99942281..99944536-chr7:100038040..100040733,2	K562	blood:
2	chr7:99687225..99689222-chr7:99941208..99944059,2	K562	blood:
3	chr7:99851711..99854330-chr7:99942995..99944936,2	K562	blood:
4	chr7:99942706..99944799-chr7:99946310..99948401,2	MCF-7	breast:
5	chr7:99942279..99946162-chr7:100025896..100028763,3	K562	blood:
6	chr7:99942126..99946670-chr7:99946770..99950661,7	K562	blood:
7	chr7:99941805..99944661-chr7:100026023..100029271,5	K562	blood:
8	chr7:99941834..99943595-chr7:99990991..99992805,2	K562	blood:

No data

Variant related genes	Relation type
PMS2P1	TF binding region
ENSG00000272752	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000121716	Chromatin interaction
ENSG00000235333	Chromatin interaction
ENSG00000168090	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs13228694	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv888774	chr7:99807265-99951315	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	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
6	esv3358931	chr7:99816130-99943645	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	esv3405423	chr7:99816156-99943860	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS 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	35 gene(s)	inside rSNPs	diseases
8	esv3508070	chr7:99816206-99943813	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	esv3508071	chr7:99816206-99943813	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	esv1830570	chr7:99901968-99945827	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	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
12	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	chr7:99934200-99943600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:99934200-99943600	Weak transcription	HSMMtube	muscle
4	chr7:99934200-99944000	Weak transcription	Fetal Kidney	kidney
5	chr7:99934200-99950800	Weak transcription	Small Intestine	intestine
6	chr7:99934400-99943800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:99934400-99944000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:99934400-99944200	Weak transcription	Colonic Mucosa	Colon
9	chr7:99934400-99944200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:99934400-99944200	Weak transcription	Ovary	ovary
11	chr7:99934400-99963400	Weak transcription	Psoas Muscle	Psoas
12	chr7:99934800-99944800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:99934800-99963800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:99935400-99944000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:99935400-99944200	Weak transcription	Brain Germinal Matrix	brain
16	chr7:99935400-99962200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:99935400-99962400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:99937600-99967800	Strong transcription	Fetal Stomach	stomach
19	chr7:99938400-99944800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr7:99938600-99949000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:99938600-99967400	Strong transcription	Fetal Brain Female	brain
22	chr7:99938800-99962400	Strong transcription	Dnd41	blood
23	chr7:99939200-99944200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:99939200-99949600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:99939400-99943400	Weak transcription	Brain Angular Gyrus	brain
26	chr7:99939400-99943400	Weak transcription	HepG2	liver
27	chr7:99939800-99943600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:99940200-99943400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:99940600-99943600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:99940800-99943400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:99940800-99943600	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:99940800-99943600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr7:99940800-99943800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:99940800-99943800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:99940800-99943800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:99940800-99943800	Weak transcription	Thymus	Thymus
37	chr7:99940800-99944000	Weak transcription	Aorta	Aorta
38	chr7:99940800-99944000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr7:99940800-99944000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:99940800-99944200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:99940800-100014600	Weak transcription	Right Atrium	heart
42	chr7:99941000-99943400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr7:99941000-99944000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr7:99941200-99943400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:99941400-99944000	Enhancers	Primary B cells from cord blood	blood
46	chr7:99941400-99944200	Weak transcription	Esophagus	oesophagus
47	chr7:99942000-99943600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr7:99942000-99944000	Weak transcription	Gastric	stomach
49	chr7:99942600-99943400	Enhancers	Primary B cells from peripheral blood	blood
50	chr7:99942600-99943400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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