Variant report

Variant	rs2299304
Chromosome Location	chr7:104771857-104771858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:104648889..104654837-chr7:104768923..104775807,9	K562	blood:
2	chr7:104763670..104767033-chr7:104769118..104772406,3	MCF-7	breast:
3	chr7:104656560..104659009-chr7:104771324..104773152,2	K562	blood:
4	chr7:104758738..104761614-chr7:104770602..104772460,2	K562	blood:
5	chr7:104771297..104772958-chr7:104788877..104790807,2	K562	blood:
6	chr7:104771792..104774094-chr7:104937728..104939504,2	K562	blood:
7	chr7:104742223..104744250-chr7:104770729..104772974,2	K562	blood:
8	chr7:104620361..104623335-chr7:104771207..104773173,3	K562	blood:
9	chr7:104651454..104654827-chr7:104768722..104773675,8	K562	blood:
10	chr7:104755331..104758126-chr7:104769285..104772324,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228393	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000135250	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10238507	0.90[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10241415	0.89[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap]
rs10266871	0.90[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap]
rs10271204	0.85[ASN][1000 genomes]
rs10277120	0.90[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap]
rs10281422	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10487150	0.86[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10953468	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]
rs10953470	0.90[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap]
rs1142	0.90[CEU][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1144	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11760317	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1204056	0.86[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap]
rs1204058	0.86[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap]
rs12668040	0.93[JPT][hapmap]
rs13223290	0.86[ASN][1000 genomes]
rs13235033	0.94[JPT][hapmap]
rs13238191	0.89[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap]
rs17721873	0.93[JPT][hapmap]
rs2003506	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2057883	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2057884	0.83[GIH][hapmap];0.88[JPT][hapmap];0.98[TSI][hapmap]
rs2192932	0.90[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];0.93[JPT][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.82[EUR][1000 genomes]
rs2237612	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs2237613	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2237617	0.87[JPT][hapmap]
rs2240463	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2299308	0.90[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.87[MEX][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap]
rs2299319	0.90[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap]
rs2470942	0.94[JPT][hapmap]
rs2470943	0.89[GIH][hapmap];0.94[JPT][hapmap]
rs2470944	0.94[JPT][hapmap]
rs2470945	0.94[JPT][hapmap]
rs2470948	0.93[JPT][hapmap]
rs3213742	0.81[EUR][1000 genomes]
rs3779210	0.90[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap]
rs3801278	0.90[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap]
rs3801281	0.90[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs3801282	0.90[CEU][hapmap];0.83[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap]
rs3801285	0.90[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.87[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap]
rs3823752	0.89[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs41562	0.90[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.87[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap]
rs41563	0.90[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.87[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap]
rs4730072	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4730073	0.81[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap]
rs6466053	0.90[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap]
rs6466056	0.89[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap]
rs6466057	0.86[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap]
rs6943183	0.90[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap]
rs6948885	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs6950620	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6962856	0.85[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs6965384	1.00[JPT][hapmap]
rs6967587	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7776707	0.89[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap]
rs7797912	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7806591	0.90[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs917114	0.90[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104678000-104812200	Strong transcription	Dnd41	blood
2	chr7:104740400-104787400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:104750200-104777000	Weak transcription	Right Atrium	heart
4	chr7:104752800-104807400	Weak transcription	Fetal Brain Male	brain
5	chr7:104753800-104772200	Weak transcription	Aorta	Aorta
6	chr7:104753800-104772800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:104753800-104776600	Weak transcription	Stomach Mucosa	stomach
8	chr7:104753800-104822000	Weak transcription	Small Intestine	intestine
9	chr7:104754400-104776800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:104754400-104850400	Weak transcription	Fetal Kidney	kidney
11	chr7:104755000-104772600	Weak transcription	Fetal Brain Female	brain
12	chr7:104755200-104782000	Weak transcription	Colonic Mucosa	Colon
13	chr7:104755600-104776600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:104755600-104778200	Weak transcription	Hela-S3	cervix
15	chr7:104755600-104790400	Weak transcription	NH-A	brain
16	chr7:104756400-104779400	Weak transcription	A549	lung
17	chr7:104756400-104806600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:104759800-104788600	Strong transcription	Primary B cells from cord blood	blood
19	chr7:104760000-104773200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr7:104760200-104772400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:104760400-104776600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:104760400-104781800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:104760800-104781600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:104761000-104804600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr7:104761200-104787200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr7:104762400-104787200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr7:104762800-104785000	Strong transcription	Primary T cells from cord blood	blood
28	chr7:104763200-104785000	Strong transcription	Fetal Intestine Large	intestine
29	chr7:104763400-104787000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:104763800-104784600	Strong transcription	Fetal Muscle Leg	muscle
31	chr7:104763800-104787400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr7:104764000-104772400	Weak transcription	Fetal Lung	lung
33	chr7:104764400-104785000	Strong transcription	Fetal Stomach	stomach
34	chr7:104764400-104785800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:104764800-104772400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:104764800-104773000	Weak transcription	NHDF-Ad	bronchial
37	chr7:104764800-104783800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:104766400-104772400	Weak transcription	Colon Smooth Muscle	Colon
39	chr7:104766600-104772600	Weak transcription	HUVEC	blood vessel
40	chr7:104766600-104772800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:104766600-104785600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr7:104766800-104772400	Weak transcription	Right Ventricle	heart
43	chr7:104766800-104779800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr7:104767200-104772400	Weak transcription	Gastric	stomach
45	chr7:104767200-104772600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:104767200-104772800	Enhancers	Brain Hippocampus Middle	brain
47	chr7:104767400-104772000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr7:104767400-104772400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr7:104767400-104772400	Weak transcription	Esophagus	oesophagus
50	chr7:104767400-104772400	Weak transcription	NHLF	lung

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