Variant report

Variant	rs4368896
Chromosome Location	chr7:140076104-140076105
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	BCLAF1	chr7:140075992-140076417	GM12878	blood:	n/a	chr7:140076252-140076259
2	BCLAF1	chr7:140076060-140076521	GM12878	blood:	n/a	chr7:140076252-140076259

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140075069..140077735-chr7:140096588..140099526,2	MCF-7	breast:
2	chr7:140075072..140077306-chr7:140082163..140084967,2	K562	blood:

Variant related genes	Relation type
ENSG00000238868	TF binding region
ENSG00000157800	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10235190	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10251020	0.81[CHB][hapmap]
rs11763598	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12667471	0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12669654	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12703793	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12703794	0.87[EUR][1000 genomes]
rs12703796	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12703799	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4341086	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4448174	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4587251	0.86[AMR][1000 genomes]
rs62490397	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62490398	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6464710	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6464713	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6464736	0.81[CEU][hapmap]
rs6953541	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6970664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6976805	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7786963	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7796411	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7803606	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[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	nsv1022919	chr7:140043299-140120546	Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2762706	chr7:140054170-140119629	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv522190	chr7:140066411-140130663	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr7:140033600-140096000	Weak transcription	Stomach Mucosa	stomach
2	chr7:140034800-140085600	Weak transcription	Psoas Muscle	Psoas
3	chr7:140042000-140084800	Weak transcription	Hela-S3	cervix
4	chr7:140046000-140076200	Weak transcription	Right Ventricle	heart
5	chr7:140047600-140084200	Weak transcription	Fetal Brain Male	brain
6	chr7:140049200-140090200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:140049600-140078000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:140049600-140078600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:140049600-140079400	Weak transcription	Brain Substantia Nigra	brain
10	chr7:140050200-140079200	Weak transcription	HUVEC	blood vessel
11	chr7:140051600-140076400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:140052000-140097400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:140052800-140079600	Weak transcription	NHDF-Ad	bronchial
14	chr7:140054200-140079800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:140054600-140077800	Weak transcription	Brain Angular Gyrus	brain
16	chr7:140055000-140077800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:140055600-140079200	Weak transcription	Fetal Kidney	kidney
18	chr7:140056800-140077400	Weak transcription	NH-A	brain
19	chr7:140056800-140079400	Weak transcription	Colonic Mucosa	Colon
20	chr7:140058600-140077800	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:140058600-140096000	Weak transcription	Small Intestine	intestine
22	chr7:140058800-140077800	Weak transcription	Placenta	Placenta
23	chr7:140058800-140079200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:140058800-140081400	Weak transcription	A549	lung
25	chr7:140058800-140084400	Weak transcription	Gastric	stomach
26	chr7:140058800-140097200	Weak transcription	Brain Anterior Caudate	brain
27	chr7:140059400-140091400	Weak transcription	Fetal Heart	heart
28	chr7:140061000-140076200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:140063400-140082600	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr7:140065000-140077000	Weak transcription	HMEC	breast
31	chr7:140065000-140077800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:140065200-140079200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:140066600-140077800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr7:140067800-140077800	Weak transcription	HSMMtube	muscle
35	chr7:140068000-140089000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:140068200-140076800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr7:140068400-140078800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:140069000-140077400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:140069000-140077800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr7:140069000-140077800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:140069000-140078400	Weak transcription	Spleen	Spleen
42	chr7:140069200-140076400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:140069200-140077800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr7:140069200-140077800	Weak transcription	Left Ventricle	heart
45	chr7:140069200-140082000	Weak transcription	Colon Smooth Muscle	Colon
46	chr7:140069400-140077800	Weak transcription	Ovary	ovary
47	chr7:140069400-140079200	Weak transcription	Brain Germinal Matrix	brain
48	chr7:140069600-140076400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:140069600-140076600	Weak transcription	Fetal Brain Female	brain
50	chr7:140069600-140091800	Weak transcription	Esophagus	oesophagus

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