Variant report

Variant	rs71608217
Chromosome Location	chr4:2611988-2611989
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13125136	1.00[AFR][1000 genomes]
rs13129679	1.00[AFR][1000 genomes]
rs13152126	1.00[AFR][1000 genomes]
rs35224370	1.00[AFR][1000 genomes]
rs71608203	1.00[AFR][1000 genomes]
rs71608205	1.00[AFR][1000 genomes]
rs71608211	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71608219	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432548	chr4:1725009-2652494	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv948659	chr4:1828867-2815632	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv1003409	chr4:2541224-2724199	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1010709	chr4:2580107-2674624	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv878443	chr4:2598799-2731331	Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2589200-2627200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:2598800-2613800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:2599400-2627200	Weak transcription	HSMM	muscle
4	chr4:2600600-2627800	Weak transcription	NHDF-Ad	bronchial
5	chr4:2600800-2612200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:2600800-2615800	Weak transcription	Osteobl	bone
7	chr4:2600800-2619400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:2600800-2619800	Weak transcription	Aorta	Aorta
9	chr4:2600800-2627000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:2601000-2621400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:2601000-2627000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:2601200-2612600	Weak transcription	Lung	lung
13	chr4:2601200-2615800	Weak transcription	NH-A	brain
14	chr4:2601200-2619800	Weak transcription	HUVEC	blood vessel
15	chr4:2601200-2622600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:2601400-2619400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:2601400-2620600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:2601400-2627000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:2601400-2628200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:2602200-2622800	Weak transcription	Pancreas	Pancrea
21	chr4:2602400-2622000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:2602600-2626600	Weak transcription	Placenta	Placenta
23	chr4:2602600-2627000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:2602600-2627000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr4:2602800-2617400	Weak transcription	Spleen	Spleen
26	chr4:2602800-2622800	Weak transcription	HepG2	liver
27	chr4:2602800-2627600	Weak transcription	Brain Germinal Matrix	brain
28	chr4:2604200-2623400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr4:2604200-2625200	Weak transcription	Adipose Nuclei	Adipose
30	chr4:2604200-2627000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr4:2604400-2618000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:2604400-2622200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:2604400-2622600	Weak transcription	Primary T cells from cord blood	blood
34	chr4:2604400-2625200	Weak transcription	Fetal Stomach	stomach
35	chr4:2604400-2627000	Weak transcription	Fetal Intestine Large	intestine
36	chr4:2604600-2627200	Weak transcription	Fetal Thymus	thymus
37	chr4:2605400-2624000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:2605400-2625200	Weak transcription	Thymus	Thymus
39	chr4:2605800-2622600	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:2606400-2613800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr4:2606400-2619200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:2606600-2619600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:2607000-2616200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:2607000-2621600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr4:2607000-2627200	Weak transcription	Primary B cells from cord blood	blood
46	chr4:2607200-2612000	Weak transcription	K562	blood
47	chr4:2607200-2616000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:2607200-2627000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:2607400-2621600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:2607400-2621800	Weak transcription	NHEK	skin

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