Variant report

Variant	rs199708
Chromosome Location	chr1:77514104-77514105
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs199664	1.00[AMR][1000 genomes]
rs199703	1.00[AMR][1000 genomes]
rs199705	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	nsv1003826	chr1:76965331-77656929	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535006	chr1:76965331-77656929	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv830292	chr1:77425571-77584307	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77497000-77516800	Weak transcription	Fetal Stomach	stomach
2	chr1:77506000-77558600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:77508600-77547600	Weak transcription	Ovary	ovary
4	chr1:77509600-77515200	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:77510400-77515800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:77510400-77517000	Weak transcription	Aorta	Aorta
7	chr1:77510600-77517000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:77510600-77517200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:77510800-77515800	Weak transcription	NHEK	skin
10	chr1:77511000-77516000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:77511200-77517000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:77511800-77520600	Weak transcription	Brain Angular Gyrus	brain
13	chr1:77512200-77515000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:77512400-77517000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:77512600-77514400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr1:77512600-77514800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr1:77512600-77515200	Enhancers	Dnd41	blood
18	chr1:77512800-77514200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr1:77512800-77514200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr1:77512800-77514400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr1:77512800-77514800	Enhancers	Primary hematopoietic stem cells	blood
22	chr1:77513000-77514200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:77513000-77514600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr1:77513200-77523600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:77513600-77514200	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr1:77513600-77514200	Enhancers	Primary T cells fromperipheralblood	blood
27	chr1:77513600-77514200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:77513600-77514200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:77513600-77514200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:77513600-77514400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:77513600-77514400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:77513600-77515000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr1:77513600-77515200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr1:77513800-77514200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:77513800-77514200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:77513800-77514400	Enhancers	Fetal Thymus	thymus

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