Variant report

Variant	rs2562729
Chromosome Location	chr7:128099181-128099182
allele	A/G
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:128038366..128039235-chr7:128099168..128099837,2	K562	blood:
2	chr7:128094251..128097600-chr7:128097947..128102494,8	K562	blood:
3	chr7:128066135..128077193-chr7:128094256..128102719,54	MCF-7	breast:
4	chr7:128046088..128049904-chr7:128098273..128102609,4	K562	blood:
5	chr7:128082541..128090035-chr7:128090151..128101015,22	MCF-7	breast:
6	chr7:128067041..128068068-chr7:128099107..128100020,7	K562	blood:
7	chr7:128065568..128066529-chr7:128099108..128100221,4	K562	blood:
8	chr7:128069994..128071005-chr7:128099002..128100606,7	MCF-7	breast:
9	chr7:128065976..128066788-chr7:128098979..128099577,2	MCF-7	breast:
10	chr7:128048057..128050618-chr7:128098751..128100517,2	MCF-7	breast:
11	chr7:128098205..128100109-chr7:128100150..128103100,2	MCF-7	breast:
12	chr7:128069972..128070811-chr7:128099025..128099827,3	K562	blood:
13	chr7:128067152..128068032-chr7:128098796..128100004,4	MCF-7	breast:
14	chr7:128070065..128071343-chr7:128098921..128099999,8	MCF-7	breast:
15	chr7:128065135..128067914-chr7:128098635..128100685,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106348	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000228700	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000238590	Chromatin interaction
ENSG00000135245	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10239393	1.00[AMR][1000 genomes]
rs10808232	1.00[AMR][1000 genomes]
rs2060716	1.00[AMR][1000 genomes]
rs2060719	1.00[AMR][1000 genomes]
rs2562728	1.00[AMR][1000 genomes]
rs2562739	1.00[AMR][1000 genomes]
rs2732383	1.00[AMR][1000 genomes]
rs2732390	1.00[AMR][1000 genomes]
rs2732391	1.00[AMR][1000 genomes]
rs2732404	1.00[AMR][1000 genomes]
rs2732410	1.00[AMR][1000 genomes]
rs2732411	1.00[AMR][1000 genomes]
rs2732430	1.00[AMR][1000 genomes]
rs28770797	1.00[AMR][1000 genomes]
rs2896406	1.00[AMR][1000 genomes]
rs3993496	1.00[AMR][1000 genomes]
rs4377901	1.00[AMR][1000 genomes]
rs4728119	1.00[AMR][1000 genomes]
rs4728121	1.00[AMR][1000 genomes]
rs4728122	1.00[AMR][1000 genomes]
rs4731499	1.00[AMR][1000 genomes]
rs57829455	1.00[AMR][1000 genomes]
rs6467183	1.00[AMR][1000 genomes]
rs6947542	1.00[AMR][1000 genomes]
rs6950246	1.00[AMR][1000 genomes]
rs6957806	1.00[AMR][1000 genomes]
rs6959989	1.00[AMR][1000 genomes]
rs6975178	1.00[AMR][1000 genomes]
rs6979742	1.00[AMR][1000 genomes]
rs7777883	1.00[AMR][1000 genomes]
rs7786173	1.00[AMR][1000 genomes]
rs9690224	1.00[AMR][1000 genomes]
rs9692127	1.00[AMR][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	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv608401	chr7:128083454-128108776	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128096400-128099600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:128096400-128116400	Weak transcription	Lung	lung
3	chr7:128096600-128099200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr7:128096600-128099200	Weak transcription	Colonic Mucosa	Colon
5	chr7:128096600-128099400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:128096800-128099200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:128096800-128099600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:128096800-128099600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:128096800-128099600	Weak transcription	Psoas Muscle	Psoas
10	chr7:128096800-128099800	Weak transcription	Right Atrium	heart
11	chr7:128096800-128101400	Weak transcription	HSMMtube	muscle
12	chr7:128097200-128099200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr7:128097200-128099200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr7:128097200-128099200	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
15	chr7:128097200-128099200	Transcr. at gene 5' and 3'	A549	lung
16	chr7:128097200-128099200	Weak transcription	NHDF-Ad	bronchial
17	chr7:128097200-128099600	Weak transcription	Ovary	ovary
18	chr7:128097200-128099600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr7:128097200-128100200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:128097400-128099200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:128097400-128099200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr7:128097400-128099600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:128097400-128099600	Weak transcription	Primary B cells from cord blood	blood
24	chr7:128097400-128099600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:128097400-128099600	Genic enhancers	K562	blood
26	chr7:128097400-128103400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:128097400-128107800	Weak transcription	Spleen	Spleen
28	chr7:128097600-128099200	Weak transcription	Stomach Mucosa	stomach
29	chr7:128097600-128099200	Weak transcription	HSMM	muscle
30	chr7:128097600-128099400	Weak transcription	Brain Hippocampus Middle	brain
31	chr7:128097600-128099600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:128097600-128099600	Weak transcription	Liver	Liver
33	chr7:128097600-128099800	Enhancers	Fetal Heart	heart
34	chr7:128097600-128101800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:128097600-128102800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:128097600-128116200	Weak transcription	Fetal Kidney	kidney
37	chr7:128097600-128116200	Weak transcription	Left Ventricle	heart
38	chr7:128097800-128099200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:128097800-128099200	Weak transcription	Brain Anterior Caudate	brain
40	chr7:128097800-128099200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr7:128097800-128099400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:128097800-128099600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr7:128097800-128099600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:128097800-128099600	Weak transcription	Pancreas	Pancrea
45	chr7:128097800-128099600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr7:128097800-128100000	Enhancers	HepG2	liver
47	chr7:128097800-128102000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:128097800-128116400	Weak transcription	Fetal Stomach	stomach
49	chr7:128097800-128116400	Weak transcription	Gastric	stomach
50	chr7:128097800-128116400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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