Variant report

Variant	rs1469554
Chromosome Location	chr7:128868159-128868160
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128866260..128868499-chr7:128899979..128902017,2	K562	blood:
2	chr7:128863424..128866182-chr7:128866726..128869206,3	K562	blood:
3	chr7:128867126..128869752-chr7:128870214..128872194,2	MCF-7	breast:
4	chr7:128863588..128866048-chr7:128867908..128870298,3	MCF-7	breast:
5	chr7:128862977..128866028-chr7:128866480..128869690,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158467	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10215998	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10235589	1.00[EUR][1000 genomes]
rs10269495	1.00[EUR][1000 genomes]
rs10281269	1.00[EUR][1000 genomes]
rs12533108	1.00[EUR][1000 genomes]
rs13240723	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1405475	1.00[EUR][1000 genomes]
rs1526898	1.00[EUR][1000 genomes]
rs1526899	1.00[EUR][1000 genomes]
rs1549788	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1609043	1.00[EUR][1000 genomes]
rs1991645	1.00[EUR][1000 genomes]
rs2402946	1.00[EUR][1000 genomes]
rs2402947	1.00[EUR][1000 genomes]
rs2463096	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2566875	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2566881	1.00[EUR][1000 genomes]
rs2566882	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694570	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2694575	1.00[EUR][1000 genomes]
rs2694576	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694577	1.00[EUR][1000 genomes]
rs2694583	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2694591	1.00[EUR][1000 genomes]
rs2718085	1.00[EUR][1000 genomes]
rs2718090	1.00[EUR][1000 genomes]
rs2718091	1.00[EUR][1000 genomes]
rs2718092	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718097	1.00[EUR][1000 genomes]
rs2718100	1.00[EUR][1000 genomes]
rs2718114	0.92[AFR][1000 genomes]
rs28399138	1.00[EUR][1000 genomes]
rs28864519	1.00[EUR][1000 genomes]
rs4731567	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6467234	1.00[EUR][1000 genomes]
rs6467236	1.00[EUR][1000 genomes]
rs6949882	1.00[EUR][1000 genomes]
rs6950279	1.00[EUR][1000 genomes]
rs9641847	1.00[EUR][1000 genomes]
rs9641848	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv1031284	chr7:128866118-128910506	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128865800-128872800	Weak transcription	Lung	lung
2	chr7:128866000-128873600	Weak transcription	Pancreas	Pancrea
3	chr7:128866000-128874400	Weak transcription	HSMM	muscle
4	chr7:128866000-128880000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:128866000-128902200	Weak transcription	Gastric	stomach
6	chr7:128866200-128868800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:128866200-128898600	Weak transcription	Thymus	Thymus
8	chr7:128866400-128868200	Enhancers	HepG2	liver
9	chr7:128866400-128869400	Weak transcription	HSMMtube	muscle
10	chr7:128866400-128891400	Weak transcription	Fetal Stomach	stomach
11	chr7:128866400-128899000	Weak transcription	Ovary	ovary
12	chr7:128866600-128868200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:128866600-128868200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:128866600-128868600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:128866600-128869600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr7:128866600-128870600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:128866600-128871000	Weak transcription	Adipose Nuclei	Adipose
18	chr7:128866600-128879000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:128866600-128880200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:128866600-128880400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:128866600-128901400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:128866800-128869200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:128866800-128871200	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:128866800-128878000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr7:128866800-128889600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:128867000-128868600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:128867000-128869000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr7:128867000-128884200	Weak transcription	Primary T cells from cord blood	blood
29	chr7:128867000-128898400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr7:128867200-128868400	Enhancers	Fetal Intestine Large	intestine
31	chr7:128867200-128869600	Enhancers	Psoas Muscle	Psoas
32	chr7:128867200-128909800	Weak transcription	Primary B cells from cord blood	blood
33	chr7:128867400-128868200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:128867400-128868600	Enhancers	Stomach Mucosa	stomach
35	chr7:128867400-128868800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr7:128867400-128869400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr7:128867400-128869400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr7:128867400-128869800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:128867600-128868200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr7:128867600-128868400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:128867600-128868600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr7:128867600-128868600	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr7:128867600-128868800	Enhancers	Fetal Intestine Small	intestine
44	chr7:128867600-128868800	Enhancers	GM12878-XiMat	blood
45	chr7:128867600-128885600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr7:128867800-128869000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:128867800-128869800	Enhancers	NHEK	skin
48	chr7:128867800-128878400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr7:128867800-128880400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr7:128868000-128868200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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