Variant report

Variant	rs2971567
Chromosome Location	chr3:99789884-99789885
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs16841886	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv869848	chr3:99652246-99904276	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv932634	chr3:99660690-99888854	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1010579	chr3:99660754-99901817	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1008483	chr3:99660754-99903769	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1010897	chr3:99660754-99904783	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1001529	chr3:99661758-99892654	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
9	nsv536665	chr3:99661758-99892654	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	nsv591148	chr3:99774720-99905803	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99767600-99801000	Weak transcription	HSMM	muscle
2	chr3:99774000-99794800	Weak transcription	Stomach Mucosa	stomach
3	chr3:99783200-99792400	Weak transcription	Psoas Muscle	Psoas
4	chr3:99783200-99793600	Weak transcription	Aorta	Aorta
5	chr3:99783400-99791400	Enhancers	HepG2	liver
6	chr3:99783600-99791200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:99783600-99792200	Weak transcription	Fetal Lung	lung
8	chr3:99784200-99791400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:99784200-99792400	Weak transcription	Fetal Stomach	stomach
10	chr3:99786800-99790400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:99786800-99790400	Weak transcription	Small Intestine	intestine
12	chr3:99787000-99792200	Weak transcription	Fetal Intestine Small	intestine
13	chr3:99787600-99795200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:99787800-99792200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr3:99787800-99792600	Enhancers	Osteobl	bone
16	chr3:99788000-99790000	Weak transcription	K562	blood
17	chr3:99788000-99790200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:99788000-99790600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr3:99788000-99791000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:99788000-99792200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:99788000-99792800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr3:99788200-99790200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr3:99788200-99790200	Weak transcription	Placenta	Placenta
24	chr3:99788200-99790200	Weak transcription	NHLF	lung
25	chr3:99788200-99790400	Weak transcription	GM12878-XiMat	blood
26	chr3:99788200-99791000	Weak transcription	Fetal Heart	heart
27	chr3:99788200-99791400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr3:99788200-99791600	Weak transcription	Fetal Intestine Large	intestine
29	chr3:99788200-99791800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr3:99788200-99792000	Weak transcription	Fetal Thymus	thymus
31	chr3:99788200-99792200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr3:99788200-99792600	Weak transcription	Thymus	Thymus
33	chr3:99788400-99790000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:99788400-99790200	Weak transcription	Ovary	ovary
35	chr3:99788400-99790200	Weak transcription	Spleen	Spleen
36	chr3:99788400-99790600	Weak transcription	Adipose Nuclei	Adipose
37	chr3:99788400-99790600	Weak transcription	Fetal Muscle Leg	muscle
38	chr3:99788400-99790600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr3:99788400-99790800	Weak transcription	Primary T cells from cord blood	blood
40	chr3:99788400-99791000	Weak transcription	Dnd41	blood
41	chr3:99788400-99791200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr3:99788400-99791200	Weak transcription	Brain Anterior Caudate	brain
43	chr3:99788400-99791600	Weak transcription	NHDF-Ad	bronchial
44	chr3:99788400-99792600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr3:99788400-99792600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr3:99788400-99792600	Weak transcription	Right Atrium	heart
47	chr3:99788600-99790400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:99788600-99790600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr3:99788600-99790800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr3:99788600-99791200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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