Variant report

Variant	rs217600
Chromosome Location	chr7:14941576-14941577
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10269178	1.00[AFR][1000 genomes]
rs10271713	1.00[AFR][1000 genomes]
rs1860581	1.00[AFR][1000 genomes]
rs217542	1.00[AFR][1000 genomes]
rs217543	1.00[AFR][1000 genomes]
rs217544	1.00[AFR][1000 genomes]
rs217586	1.00[AFR][1000 genomes]
rs217587	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs217592	1.00[AFR][1000 genomes]
rs217596	1.00[AFR][1000 genomes]
rs2191476	1.00[AFR][1000 genomes]
rs4719428	1.00[AFR][1000 genomes]
rs4721379	1.00[AFR][1000 genomes]
rs4721381	1.00[AFR][1000 genomes]
rs6461136	1.00[AFR][1000 genomes]
rs6461139	1.00[AFR][1000 genomes]
rs7781882	1.00[AFR][1000 genomes]
rs7792515	1.00[AFR][1000 genomes]
rs978175	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031041	chr7:14624127-14999201	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv538741	chr7:14624127-14999201	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv887714	chr7:14888418-14941576	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
4	esv2758104	chr7:14896877-15299786	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2759512	chr7:14896877-15299786	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1027520	chr7:14905287-15035993	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv538742	chr7:14905287-15035993	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1032569	chr7:14905287-15597069	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv887716	chr7:14933955-15021223	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14938800-14942000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:14939200-14943800	Active TSS	Brain Anterior Caudate	brain
3	chr7:14939400-14941600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:14939400-14941800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:14939400-14942000	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:14939600-14943600	Active TSS	Brain Angular Gyrus	brain
7	chr7:14939600-14943800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:14939800-14942000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:14940200-14941800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:14940200-14942000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:14940800-14942200	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr7:14940800-14942600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:14941000-14943000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:14941200-14941800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr7:14941400-14941600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:14941400-14941600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr7:14941400-14941600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:14941400-14941600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr7:14941400-14941600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr7:14941400-14941800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:14941400-14941800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr7:14941400-14942000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
23	chr7:14941400-14942200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:14941400-14942200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:14941400-14942400	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr7:14941400-14942600	Active TSS	Osteobl	bone
27	chr7:14941400-14943000	Active TSS	Brain Cingulate Gyrus	brain
28	chr7:14941400-14943000	Active TSS	Brain Germinal Matrix	brain
29	chr7:14941400-14943200	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr7:14941400-14943400	Active TSS	Brain Hippocampus Middle	brain
31	chr7:14941400-14943400	Active TSS	Fetal Brain Female	brain

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