Variant report

Variant	rs2299296
Chromosome Location	chr7:104745269-104745270
allele	C/T
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	chr7:104745040-104745396	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr7:104745184-104745530	MCF-7	breast:	n/a	n/a
3	POLR2A	chr7:104744698-104750302	K562	blood:	n/a	n/a
4	POLR2A	chr7:104745252-104745615	K562	blood:	n/a	n/a
5	POLR2A	chr7:104744828-104745543	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:104744846-104745289	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104740053..104743335-chr7:104744660..104749506,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-7	chr7:104743285-104745930	ENSG00000272918.1

Variant related genes	Relation type
KMT2E	TF binding region
ENSG00000005483	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs2073550	1.00[EUR][1000 genomes]
rs2240456	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240462	0.93[ASN][1000 genomes]
rs2240464	0.90[ASN][1000 genomes]
rs2299300	1.00[EUR][1000 genomes]
rs2299301	1.00[EUR][1000 genomes]
rs2299302	0.90[ASN][1000 genomes]
rs2299307	0.93[ASN][1000 genomes]
rs2299310	0.87[ASN][1000 genomes]
rs2299317	0.81[ASN][1000 genomes]
rs2299318	0.81[ASN][1000 genomes]
rs28722876	0.87[ASN][1000 genomes]
rs3735370	0.81[ASN][1000 genomes]
rs3735371	0.81[ASN][1000 genomes]
rs3735378	1.00[EUR][1000 genomes]
rs3779206	0.81[ASN][1000 genomes]
rs3779211	0.93[ASN][1000 genomes]
rs3801280	0.81[ASN][1000 genomes]
rs3801286	0.87[ASN][1000 genomes]
rs3801287	0.93[ASN][1000 genomes]
rs56300169	1.00[EUR][1000 genomes]
rs56318802	0.87[ASN][1000 genomes]
rs56654846	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56663357	0.81[ASN][1000 genomes]
rs56666353	0.93[ASN][1000 genomes]
rs56676421	0.93[ASN][1000 genomes]
rs56851478	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57323610	0.93[ASN][1000 genomes]
rs57369490	0.90[ASN][1000 genomes]
rs57492989	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58011998	0.81[ASN][1000 genomes]
rs58469240	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58852948	0.81[ASN][1000 genomes]
rs59171738	0.84[ASN][1000 genomes]
rs59242356	1.00[EUR][1000 genomes]
rs59263503	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59290277	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59494471	0.87[ASN][1000 genomes]
rs59581221	0.87[ASN][1000 genomes]
rs60327543	0.81[ASN][1000 genomes]
rs60714423	0.90[ASN][1000 genomes]
rs60808750	0.87[ASN][1000 genomes]
rs60947765	0.81[ASN][1000 genomes]
rs60968925	0.81[ASN][1000 genomes]
rs61262987	0.93[ASN][1000 genomes]
rs61383544	1.00[EUR][1000 genomes]
rs61677699	0.93[ASN][1000 genomes]
rs61705676	0.93[ASN][1000 genomes]
rs73404094	0.93[ASN][1000 genomes]

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	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104677800-104758200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:104678000-104812200	Strong transcription	Dnd41	blood
3	chr7:104681200-104758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:104681200-104760400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr7:104685600-104759000	Strong transcription	Primary B cells from peripheral blood	blood
6	chr7:104701400-104758800	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr7:104702200-104747800	Weak transcription	Stomach Mucosa	stomach
8	chr7:104702800-104758800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:104703600-104759000	Strong transcription	Fetal Intestine Large	intestine
10	chr7:104706000-104760200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:104712400-104758800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:104718200-104750600	Weak transcription	Fetal Brain Male	brain
13	chr7:104720600-104746200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:104721600-104749400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:104722200-104759400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:104724200-104748000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:104726800-104747800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:104727800-104758200	Strong transcription	Fetal Thymus	thymus
19	chr7:104727800-104759200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:104727800-104759800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:104727800-104760400	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr7:104728000-104760200	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr7:104728200-104758400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:104728200-104758400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr7:104728400-104756800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:104728400-104758400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:104728400-104758400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:104728600-104756000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr7:104733800-104747600	Weak transcription	Esophagus	oesophagus
30	chr7:104734800-104755200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:104735000-104749400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:104737000-104756000	Strong transcription	Duodenum Mucosa	Duodenum
33	chr7:104737000-104757800	Strong transcription	Adipose Nuclei	Adipose
34	chr7:104737800-104758800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:104738600-104758400	Strong transcription	Fetal Lung	lung
36	chr7:104738800-104760200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:104739000-104759200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr7:104739400-104746000	Weak transcription	Fetal Heart	heart
39	chr7:104739600-104755800	Strong transcription	HepG2	liver
40	chr7:104739800-104755600	Strong transcription	NH-A	brain
41	chr7:104739800-104757800	Strong transcription	HSMM	muscle
42	chr7:104740000-104758400	Strong transcription	NHDF-Ad	bronchial
43	chr7:104740200-104753200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:104740200-104759000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:104740200-104759400	Strong transcription	Primary B cells from cord blood	blood
46	chr7:104740400-104748000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr7:104740400-104753800	Strong transcription	Fetal Muscle Leg	muscle
48	chr7:104740400-104756000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:104740400-104756200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:104740400-104758200	Strong transcription	HUES48 Cell Line	embryonic stem cell

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