Variant report

Variant	rs2691699
Chromosome Location	chr7:83717020-83717021
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10488270	0.87[MEX][hapmap]
rs13222995	0.81[MEX][hapmap]
rs2301892	0.86[MEX][hapmap]
rs2527034	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2527035	1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs7795376	0.88[ASN][1000 genomes]
rs7797860	0.87[ASN][1000 genomes]
rs7801391	0.89[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.87[ASN][1000 genomes]
rs7801600	0.88[MEX][hapmap]

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	nsv888628	chr7:83659577-83722691	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv3349983	chr7:83715016-83717114	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83707400-83721600	Weak transcription	Fetal Brain Male	brain
2	chr7:83708000-83718000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:83711800-83720800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:83714800-83718200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:83714800-83720000	Weak transcription	Dnd41	blood
6	chr7:83715400-83718000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:83715400-83718000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:83715400-83718200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:83715400-83718200	Weak transcription	Osteobl	bone
10	chr7:83715600-83718000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:83715600-83718000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:83715600-83718000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:83715600-83718000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:83715600-83718000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:83715600-83718000	Weak transcription	A549	lung
16	chr7:83715600-83718000	Weak transcription	NH-A	brain
17	chr7:83715600-83718000	Weak transcription	NHLF	lung
18	chr7:83715600-83718200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:83715600-83718400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:83715600-83720800	Weak transcription	Colon Smooth Muscle	Colon
21	chr7:83715600-83720800	Weak transcription	Fetal Heart	heart
22	chr7:83715600-83720800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:83715600-83721600	Weak transcription	NHDF-Ad	bronchial
24	chr7:83715600-83730200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:83715600-83731400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:83715800-83718000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:83715800-83718400	Weak transcription	Fetal Kidney	kidney
28	chr7:83715800-83721000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:83716200-83717800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:83716600-83718600	Enhancers	Fetal Lung	lung

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