Variant report

Variant	rs71608219
Chromosome Location	chr4:2627950-2627951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13125136	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13129679	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13152126	1.00[AMR][1000 genomes]
rs34574967	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35224370	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35546272	1.00[EUR][1000 genomes]
rs35670376	1.00[AMR][1000 genomes]
rs71608211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71608217	1.00[ASN][1000 genomes]
rs71608242	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv829839	chr4:2624422-2659610	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2601400-2628200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:2619800-2628000	Weak transcription	Small Intestine	intestine
3	chr4:2620000-2628000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:2620000-2630000	Weak transcription	HUVEC	blood vessel
5	chr4:2620000-2632000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr4:2622200-2628000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:2622200-2648400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:2622200-2652800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:2622400-2628000	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:2623200-2628000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:2623600-2639400	Weak transcription	Stomach Mucosa	stomach
12	chr4:2624200-2628000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:2624200-2632600	Weak transcription	Psoas Muscle	Psoas
14	chr4:2624400-2648200	Weak transcription	Hela-S3	cervix
15	chr4:2624800-2628200	Weak transcription	HSMMtube	muscle
16	chr4:2625400-2629800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:2625800-2628000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:2626000-2628000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr4:2626200-2661000	Strong transcription	Fetal Stomach	stomach
20	chr4:2626400-2631000	Strong transcription	Thymus	Thymus
21	chr4:2626400-2632800	Strong transcription	Fetal Intestine Small	intestine
22	chr4:2626600-2628800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:2626600-2630600	Strong transcription	Spleen	Spleen
24	chr4:2626600-2636200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:2626600-2641600	Weak transcription	Fetal Brain Male	brain
26	chr4:2626600-2646600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:2626600-2647400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:2626600-2653400	Strong transcription	Placenta	Placenta
29	chr4:2626600-2654600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:2626800-2628200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr4:2626800-2634200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:2626800-2646600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr4:2626800-2667800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:2626800-2668400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr4:2627000-2628000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
36	chr4:2627000-2628200	Genic enhancers	Stomach Smooth Muscle	stomach
37	chr4:2627000-2628400	Genic enhancers	Brain Cingulate Gyrus	brain
38	chr4:2627000-2628600	Strong transcription	Fetal Kidney	kidney
39	chr4:2627000-2628600	Strong transcription	NH-A	brain
40	chr4:2627000-2628800	Strong transcription	Pancreas	Pancrea
41	chr4:2627000-2629000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr4:2627000-2629000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:2627000-2629000	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr4:2627000-2630200	Strong transcription	Colonic Mucosa	Colon
45	chr4:2627000-2630400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:2627000-2630400	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr4:2627000-2630600	Strong transcription	Primary T cells from cord blood	blood
48	chr4:2627000-2630600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:2627000-2630600	Strong transcription	Fetal Intestine Large	intestine
50	chr4:2627000-2630600	Strong transcription	Gastric	stomach

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