Variant report

Variant	rs10229557
Chromosome Location	chr7:138550994-138550995
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:138411106..138411649-chr7:138550382..138551292,2	MCF-7	breast:
2	chr7:138546026..138547910-chr7:138550834..138552380,2	MCF-7	breast:
3	chr7:138145192..138147513-chr7:138549257..138551962,2	MCF-7	breast:
4	chr7:138549672..138552619-chr7:138553684..138556452,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122779	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10954632	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10954633	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1993068	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6467814	0.87[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6976653	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7779986	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv831154	chr7:138470488-138674113	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1027143	chr7:138480084-138992900	ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv539136	chr7:138480084-138992900	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv1800954	chr7:138541488-138557718	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138515800-138554000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:138517400-138554200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:138518200-138565800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:138520800-138552400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:138521000-138571000	Weak transcription	Brain Anterior Caudate	brain
6	chr7:138523800-138572400	Weak transcription	Fetal Heart	heart
7	chr7:138530800-138566000	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:138532200-138557400	Weak transcription	Small Intestine	intestine
9	chr7:138533600-138553600	Weak transcription	Stomach Mucosa	stomach
10	chr7:138534600-138592400	Weak transcription	Brain Angular Gyrus	brain
11	chr7:138535200-138552000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:138536800-138565200	Weak transcription	Fetal Kidney	kidney
13	chr7:138536800-138583000	Weak transcription	HUVEC	blood vessel
14	chr7:138539200-138557800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:138539200-138570400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:138540200-138556600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:138540400-138552000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:138541400-138554000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:138542600-138568400	Weak transcription	HepG2	liver
20	chr7:138543000-138558600	Strong transcription	Fetal Stomach	stomach
21	chr7:138543000-138569000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:138543400-138555400	Weak transcription	Fetal Brain Male	brain
23	chr7:138543400-138560000	Weak transcription	Dnd41	blood
24	chr7:138543400-138561200	Weak transcription	HSMM	muscle
25	chr7:138543400-138565800	Weak transcription	Adipose Nuclei	Adipose
26	chr7:138543600-138556600	Strong transcription	Brain Germinal Matrix	brain
27	chr7:138543600-138556600	Strong transcription	Fetal Brain Female	brain
28	chr7:138543800-138561000	Weak transcription	NHDF-Ad	bronchial
29	chr7:138544400-138565800	Weak transcription	Brain Substantia Nigra	brain
30	chr7:138544600-138552200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:138544600-138574800	Weak transcription	Spleen	Spleen
32	chr7:138544800-138551200	Weak transcription	Placenta	Placenta
33	chr7:138544800-138552400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr7:138544800-138557800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr7:138545400-138597200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr7:138545600-138554800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:138546000-138552200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:138546000-138566200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:138546200-138551000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:138546200-138551200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:138546200-138551200	Weak transcription	Lung	lung
42	chr7:138546200-138552400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:138546200-138552400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:138546200-138552400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:138546200-138552400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:138546200-138552400	Weak transcription	Gastric	stomach
47	chr7:138546200-138552400	Weak transcription	Left Ventricle	heart
48	chr7:138546200-138552400	Weak transcription	Ovary	ovary
49	chr7:138546200-138553200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:138546200-138554200	Weak transcription	Esophagus	oesophagus

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