Variant report

Variant	rs4510778
Chromosome Location	chr7:98706717-98706718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:98701918..98704842-chr7:98705814..98708479,3	MCF-7	breast:
2	chr7:98657665..98659351-chr7:98705792..98707961,2	MCF-7	breast:
3	chr7:98705746..98709744-chr7:98739368..98742285,3	MCF-7	breast:
4	chr7:98704874..98707226-chr7:98739662..98742113,2	K562	blood:
5	chr7:98696493..98698326-chr7:98705563..98708307,2	MCF-7	breast:
6	chr7:98700393..98702654-chr7:98706594..98709007,3	K562	blood:

Variant related genes	Relation type
ENSG00000198742	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10231389	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1115930	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11770956	0.83[EUR][1000 genomes]
rs12534243	0.81[AFR][1000 genomes]
rs12705023	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13237374	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2176021	0.82[AFR][1000 genomes]
rs28760348	1.00[EUR][1000 genomes]
rs4292617	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4604368	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6955273	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6956482	1.00[EUR][1000 genomes]
rs6975671	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];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	nsv1024529	chr7:98194830-98793518	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539036	chr7:98194830-98793518	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active 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 miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98692600-98706800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr7:98694000-98706800	Weak transcription	Right Atrium	heart
3	chr7:98697400-98709200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:98697400-98717600	Weak transcription	Dnd41	blood
5	chr7:98698200-98709400	Weak transcription	Fetal Intestine Small	intestine
6	chr7:98699400-98706800	Weak transcription	Fetal Stomach	stomach
7	chr7:98700800-98706800	Weak transcription	Esophagus	oesophagus
8	chr7:98701000-98706800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:98701200-98707000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:98701400-98706800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:98701400-98706800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:98701400-98707000	Weak transcription	K562	blood
13	chr7:98702600-98706800	Weak transcription	Fetal Brain Female	brain
14	chr7:98702600-98710200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:98702800-98708000	Weak transcription	Fetal Heart	heart
16	chr7:98703200-98707400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr7:98703200-98707600	Enhancers	Adipose Nuclei	Adipose
18	chr7:98703200-98708400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:98703200-98710200	Enhancers	HMEC	breast
20	chr7:98703400-98706800	Enhancers	Brain Cingulate Gyrus	brain
21	chr7:98703400-98707400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr7:98703400-98711200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr7:98703600-98706800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:98703600-98707800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr7:98703800-98707200	Enhancers	Stomach Mucosa	stomach
26	chr7:98703800-98708200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:98703800-98711000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:98704000-98707800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:98704000-98708200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:98704200-98707200	Enhancers	GM12878-XiMat	blood
31	chr7:98704400-98707400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:98704400-98710200	Enhancers	Brain Hippocampus Middle	brain
33	chr7:98704600-98709600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr7:98704600-98710200	Enhancers	Brain Angular Gyrus	brain
35	chr7:98704600-98710400	Enhancers	NHEK	skin
36	chr7:98704800-98706800	Weak transcription	Liver	Liver
37	chr7:98705000-98710400	Enhancers	HSMM	muscle
38	chr7:98705200-98707200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:98705200-98707200	Enhancers	Pancreas	Pancrea
40	chr7:98705200-98707400	Enhancers	Fetal Muscle Leg	muscle
41	chr7:98705200-98707600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr7:98705200-98711000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr7:98705400-98707200	Enhancers	Fetal Thymus	thymus
44	chr7:98705400-98707200	Enhancers	Spleen	Spleen
45	chr7:98705400-98707400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr7:98705400-98710200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr7:98705600-98706800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:98705600-98706800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:98705600-98706800	Weak transcription	Aorta	Aorta
50	chr7:98705600-98706800	Weak transcription	Psoas Muscle	Psoas

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