Variant report

Variant	rs10953468
Chromosome Location	chr7:104741842-104741843
allele	A/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	GATA3	chr7:104741679-104741942	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr7:104741706-104742073	U87	brain:	n/a	n/a
3	POLR2A	chr7:104741606-104742047	U87	brain:	n/a	n/a
4	POLR2A	chr7:104734140-104742097	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:104738367..104742450-chr7:104745588..104750008,6	MCF-7	breast:
2	chr7:104740053..104743335-chr7:104744660..104749506,6	K562	blood:
3	chr7:104653228..104656123-chr7:104741244..104743296,2	K562	blood:

Variant related genes	Relation type
KMT2E	TF binding region
ENSG00000272918	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000228393	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10238507	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10266871	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs10271204	0.88[ASN][1000 genomes]
rs10277120	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs10281422	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs10487150	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10953470	0.91[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs1142	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11760317	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12668040	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs13223290	0.89[ASN][1000 genomes]
rs13235033	0.94[JPT][hapmap]
rs17721873	0.93[JPT][hapmap]
rs2003506	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2057883	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2057884	0.88[JPT][hapmap]
rs2192932	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.89[YRI][hapmap];0.86[EUR][1000 genomes]
rs2237612	0.84[CHB][hapmap];0.93[JPT][hapmap]
rs2237613	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs2237617	0.81[JPT][hapmap]
rs2240463	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2299304	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2299308	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs2299319	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2470942	0.94[JPT][hapmap]
rs2470943	0.94[JPT][hapmap]
rs2470944	0.94[JPT][hapmap]
rs2470945	0.94[JPT][hapmap]
rs2470948	0.93[JPT][hapmap]
rs3213742	0.85[EUR][1000 genomes]
rs3779210	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3801278	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs3801281	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3801282	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs3801285	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs3823752	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs41562	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs41563	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs4730072	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs4730073	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6466053	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6466056	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6943183	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs6948885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[EUR][1000 genomes]
rs6950620	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6965384	1.00[JPT][hapmap]
rs6967587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7776707	1.00[JPT][hapmap]
rs7797912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7806591	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs917114	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]

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	chr7:104704000-104745200	Weak transcription	Psoas Muscle	Psoas
11	chr7:104706000-104760200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:104709600-104744400	Weak transcription	Right Ventricle	heart
13	chr7:104712400-104758800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:104718200-104750600	Weak transcription	Fetal Brain Male	brain
15	chr7:104720600-104746200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:104721400-104744600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:104721600-104744800	Weak transcription	Spleen	Spleen
18	chr7:104721600-104749400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:104722200-104759400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr7:104724000-104743200	Weak transcription	Brain Angular Gyrus	brain
21	chr7:104724200-104744400	Weak transcription	Aorta	Aorta
22	chr7:104724200-104748000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:104724800-104743200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:104724800-104744000	Weak transcription	Small Intestine	intestine
25	chr7:104726400-104744600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:104726800-104743800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:104726800-104744800	Weak transcription	Gastric	stomach
28	chr7:104726800-104747800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:104727800-104758200	Strong transcription	Fetal Thymus	thymus
30	chr7:104727800-104759200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:104727800-104759800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:104727800-104760400	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr7:104728000-104760200	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr7:104728200-104758400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:104728200-104758400	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr7:104728400-104756800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:104728400-104758400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:104728400-104758400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:104728600-104756000	Strong transcription	Fetal Muscle Trunk	muscle
40	chr7:104729600-104744800	Weak transcription	NHEK	skin
41	chr7:104732800-104743200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr7:104732800-104744000	Weak transcription	Pancreas	Pancrea
43	chr7:104732800-104744600	Weak transcription	Ovary	ovary
44	chr7:104733600-104743000	Weak transcription	Colonic Mucosa	Colon
45	chr7:104733600-104743600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:104733600-104744600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:104733600-104744600	Weak transcription	Thymus	Thymus
48	chr7:104733800-104742400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:104733800-104743400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr7:104733800-104743800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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