Variant report

Variant	rs41348445
Chromosome Location	chr7:2987113-2987114
allele	A/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:6)

rs_ID	r²[population]
rs17132850	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41324544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41328150	1.00[AMR][1000 genomes]
rs41467749	1.00[AMR][1000 genomes]
rs41533747	1.00[AMR][1000 genomes]
rs7799701	1.00[AMR][1000 genomes]

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	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1022938	chr7:2899514-3131881	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv605873	chr7:2920067-3204177	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1025727	chr7:2938301-3064008	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1026476	chr7:2965034-3311344	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv538656	chr7:2965034-3311344	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv464260	chr7:2966138-3315572	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv605874	chr7:2966138-3315572	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1018287	chr7:2967524-3298539	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv538657	chr7:2967524-3298539	Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2933400-2987200	Weak transcription	Gastric	stomach
2	chr7:2943800-2988200	Strong transcription	Primary T cells from cord blood	blood
3	chr7:2944000-2988200	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr7:2944200-2987400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:2944400-2987400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:2944400-2988400	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr7:2944800-2987400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr7:2944800-2987600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:2944800-2987600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:2945400-2987400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:2951000-2988400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:2957000-2988000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:2968600-2999400	Weak transcription	Right Atrium	heart
14	chr7:2968800-2992000	Weak transcription	Esophagus	oesophagus
15	chr7:2970000-2987400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:2972600-2987200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:2974200-2996000	Weak transcription	HUVEC	blood vessel
18	chr7:2974400-2988000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:2975000-2988600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:2975800-2996800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr7:2978200-2988200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:2978200-2989000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:2980000-2999800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:2981000-2987600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr7:2981200-2989000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:2981200-2992400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:2981400-2988800	Strong transcription	Primary B cells from cord blood	blood
28	chr7:2982400-2987400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr7:2982400-2987600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:2982600-2987600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr7:2984200-2988000	Weak transcription	NHEK	skin
32	chr7:2984200-2988200	Weak transcription	Fetal Brain Male	brain
33	chr7:2984200-2992000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:2984200-2993800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:2984400-2994000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:2984600-2990000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:2985000-2988000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:2985000-2989800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr7:2985200-2993600	Weak transcription	Fetal Intestine Small	intestine
40	chr7:2985400-2989800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr7:2985400-2992600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr7:2985400-2996200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:2985800-2988000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:2985800-2991800	Weak transcription	Thymus	Thymus
45	chr7:2986000-2988000	Enhancers	Brain Germinal Matrix	brain
46	chr7:2986000-2993200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr7:2986400-2987400	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr7:2986400-2989000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:2986400-2992000	Weak transcription	Fetal Thymus	thymus
50	chr7:2986400-2995000	Weak transcription	Spleen	Spleen

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