Variant report

Variant	rs2016607
Chromosome Location	chr7:128850875-128850876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128803706..128804884-chr7:128850028..128850982,7	MCF-7	breast:
2	chr7:128845249..128846991-chr7:128849392..128851988,2	K562	blood:
3	chr7:128849557..128852141-chr7:128852235..128854201,2	K562	blood:
4	chr7:128067069..128067967-chr7:128850452..128850953,2	K562	blood:
5	chr7:128850531..128853101-chr7:128863862..128865602,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243230	Chromatin interaction
ENSG00000158467	Chromatin interaction
ENSG00000200629	Chromatin interaction
ENSG00000128602	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1061275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1061282	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1061283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11975133	0.80[EUR][1000 genomes]
rs12706870	0.84[EUR][1000 genomes]
rs13221770	1.00[CEU][hapmap]
rs13223446	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs13225516	1.00[CEU][hapmap]
rs13229264	0.84[EUR][1000 genomes]
rs13231139	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs13235047	0.84[EUR][1000 genomes]
rs13236334	0.84[EUR][1000 genomes]
rs13240434	0.84[EUR][1000 genomes]
rs13241894	0.84[EUR][1000 genomes]
rs13242728	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13242765	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13244260	0.83[EUR][1000 genomes]
rs13245719	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs13246455	1.00[CEU][hapmap]
rs2703099	1.00[JPT][hapmap]
rs34100080	0.84[EUR][1000 genomes]
rs34535486	0.84[EUR][1000 genomes]
rs34584368	0.83[EUR][1000 genomes]
rs34643315	0.84[EUR][1000 genomes]
rs34853082	0.84[EUR][1000 genomes]
rs34894139	0.96[EUR][1000 genomes]
rs34920883	0.83[EUR][1000 genomes]
rs34989446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35239026	0.84[EUR][1000 genomes]
rs35678076	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35695777	0.84[EUR][1000 genomes]
rs4731559	1.00[JPT][hapmap]
rs71577835	0.84[EUR][1000 genomes]
rs71577839	0.80[EUR][1000 genomes]
rs71577849	0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831127	chr7:128716256-128874691	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128830600-128861800	Weak transcription	Thymus	Thymus
2	chr7:128834600-128853800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:128839600-128853600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:128840800-128854200	Strong transcription	Fetal Stomach	stomach
5	chr7:128841400-128853400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:128841400-128855600	Weak transcription	HSMM	muscle
7	chr7:128842000-128853400	Strong transcription	Fetal Intestine Small	intestine
8	chr7:128842400-128853400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:128842400-128864000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:128843000-128853200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:128843000-128853400	Strong transcription	Fetal Muscle Leg	muscle
12	chr7:128843200-128852000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:128843200-128853400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:128843200-128864000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:128843400-128864200	Weak transcription	Spleen	Spleen
16	chr7:128843600-128858200	Weak transcription	Dnd41	blood
17	chr7:128843800-128851600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:128843800-128852600	Weak transcription	Lung	lung
19	chr7:128843800-128853800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:128844400-128853200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:128844600-128852800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:128844600-128853200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:128844600-128853400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:128844600-128853400	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:128844600-128863800	Weak transcription	Fetal Brain Male	brain
26	chr7:128844800-128853000	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr7:128844800-128853000	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:128844800-128853200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:128844800-128853200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:128844800-128864000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr7:128845000-128851600	Strong transcription	HepG2	liver
32	chr7:128845000-128852800	Strong transcription	Fetal Intestine Large	intestine
33	chr7:128845000-128853200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:128845200-128852400	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr7:128845400-128853000	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr7:128845400-128853200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:128845800-128851800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:128845800-128863600	Weak transcription	Colonic Mucosa	Colon
39	chr7:128846200-128853600	Weak transcription	HSMMtube	muscle
40	chr7:128846400-128851000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:128846600-128858400	Weak transcription	Left Ventricle	heart
42	chr7:128846600-128862200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr7:128847000-128854000	Weak transcription	GM12878-XiMat	blood
44	chr7:128847200-128864000	Weak transcription	Psoas Muscle	Psoas
45	chr7:128847600-128854600	Weak transcription	NHLF	lung
46	chr7:128847600-128858400	Weak transcription	Adipose Nuclei	Adipose
47	chr7:128847600-128864000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:128848200-128852800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:128848200-128853000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr7:128848400-128852000	Strong transcription	Fetal Brain Female	brain

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