Variant report

Variant	rs56350018
Chromosome Location	chr7:98659481-98659482
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:98658561..98660206-chr7:98724640..98727497,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs55841526	1.00[AFR][1000 genomes]
rs56031804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57974063	1.00[AMR][1000 genomes]
rs58427215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58521095	1.00[AMR][1000 genomes]
rs59459375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60728304	1.00[AFR][1000 genomes]
rs73709534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711449	1.00[AMR][1000 genomes]
rs73711452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711463	1.00[AMR][1000 genomes]
rs73711468	1.00[AMR][1000 genomes]
rs73711469	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv1034506	chr7:98556216-98678440	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98638600-98676000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:98645600-98664800	Weak transcription	Psoas Muscle	Psoas
3	chr7:98645800-98659800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:98649200-98670000	Weak transcription	Stomach Mucosa	stomach
5	chr7:98649400-98665000	Weak transcription	HUVEC	blood vessel
6	chr7:98650000-98666600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:98650200-98681000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:98650400-98661400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:98650400-98676600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:98651600-98668000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:98652400-98667200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:98652400-98667800	Weak transcription	Brain Angular Gyrus	brain
13	chr7:98652800-98665000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:98653000-98690800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:98653600-98665600	Weak transcription	Aorta	Aorta
16	chr7:98653600-98676600	Weak transcription	Spleen	Spleen
17	chr7:98653800-98674000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:98654000-98676400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:98654000-98676600	Weak transcription	NHLF	lung
20	chr7:98654200-98660400	Weak transcription	Fetal Heart	heart
21	chr7:98654800-98669400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:98654800-98690200	Weak transcription	Fetal Kidney	kidney
23	chr7:98655000-98660400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:98655000-98665000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:98655000-98666200	Weak transcription	Brain Hippocampus Middle	brain
26	chr7:98655000-98669000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:98655000-98676600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:98655000-98676800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr7:98655200-98659600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:98655200-98659600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:98655200-98659800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr7:98655200-98660400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:98655200-98660800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr7:98655200-98665000	Weak transcription	Gastric	stomach
35	chr7:98655200-98665000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr7:98655200-98665000	Weak transcription	Small Intestine	intestine
37	chr7:98655200-98665200	Weak transcription	Right Ventricle	heart
38	chr7:98655200-98665800	Weak transcription	Esophagus	oesophagus
39	chr7:98655200-98666400	Weak transcription	Brain Substantia Nigra	brain
40	chr7:98655200-98666600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:98655200-98667400	Weak transcription	Colon Smooth Muscle	Colon
42	chr7:98655200-98667800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr7:98655200-98667800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:98655200-98670000	Weak transcription	NH-A	brain
45	chr7:98655200-98670200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:98655200-98674000	Weak transcription	Primary T cells from cord blood	blood
47	chr7:98655200-98674400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:98655200-98675800	Weak transcription	Fetal Brain Female	brain
49	chr7:98655200-98676200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:98655200-98676600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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