Variant report

Variant	rs28912696
Chromosome Location	chr7:7746549-7746550
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7737251..7739493-chr7:7744251..7746745,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10486187	0.82[JPT][hapmap]
rs12668835	1.00[YRI][hapmap]
rs17481971	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17482047	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17545656	1.00[YRI][hapmap]
rs1859605	1.00[YRI][hapmap]
rs28912681	0.83[ASN][1000 genomes]
rs28915974	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3823841	1.00[YRI][hapmap]
rs4634522	0.83[ASN][1000 genomes]
rs4720748	1.00[YRI][hapmap]
rs62432602	0.83[ASN][1000 genomes]
rs6974232	1.00[YRI][hapmap]
rs7800702	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv887479	chr7:7681131-7779091	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv887481	chr7:7681576-7779324	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv887482	chr7:7682439-7785047	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv887483	chr7:7682439-7798217	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv887484	chr7:7692483-7769363	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv887485	chr7:7692483-7917360	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv606045	chr7:7704889-7755491	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv887486	chr7:7712498-7785047	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
17	nsv1026564	chr7:7734846-7897847	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	nsv887487	chr7:7740914-7802561	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7717800-7749000	Weak transcription	Fetal Intestine Small	intestine
2	chr7:7721600-7748800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr7:7722000-7750600	Weak transcription	Primary B cells from cord blood	blood
4	chr7:7727800-7748800	Weak transcription	Small Intestine	intestine
5	chr7:7735400-7746600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:7735400-7746800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:7736400-7746600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:7736800-7747000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:7736800-7748600	Weak transcription	Stomach Mucosa	stomach
10	chr7:7737000-7746800	Weak transcription	Aorta	Aorta
11	chr7:7737600-7747000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:7737600-7778800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:7739400-7749000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:7739600-7747200	Weak transcription	Osteobl	bone
15	chr7:7739600-7747400	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:7739600-7748400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr7:7740000-7759000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr7:7741600-7746800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr7:7743600-7747000	Weak transcription	Left Ventricle	heart
20	chr7:7743600-7747400	Weak transcription	HepG2	liver
21	chr7:7743600-7749000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:7743600-7762800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:7743600-7772800	Weak transcription	Gastric	stomach
24	chr7:7744400-7746800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr7:7744400-7747000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:7744600-7746600	Enhancers	Primary B cells from peripheral blood	blood
27	chr7:7744800-7746800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr7:7744800-7749000	Weak transcription	Right Ventricle	heart
29	chr7:7745200-7747000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:7745400-7747400	Weak transcription	HMEC	breast
31	chr7:7745400-7747800	Enhancers	HSMM	muscle
32	chr7:7745400-7749200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:7745600-7758800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:7745800-7746800	Flanking Active TSS	GM12878-XiMat	blood
35	chr7:7745800-7747200	Enhancers	Brain Germinal Matrix	brain
36	chr7:7745800-7747400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr7:7745800-7747800	Enhancers	Rectal Smooth Muscle	rectum
38	chr7:7745800-7750000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:7746000-7747200	Weak transcription	Fetal Lung	lung
40	chr7:7746000-7748400	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:7746000-7762400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr7:7746200-7746600	Enhancers	Dnd41	blood
43	chr7:7746200-7747000	Enhancers	Stomach Smooth Muscle	stomach
44	chr7:7746200-7747000	Enhancers	NHDF-Ad	bronchial
45	chr7:7746200-7747400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr7:7746200-7747400	Enhancers	Fetal Brain Male	brain
47	chr7:7746200-7747400	Enhancers	NH-A	brain
48	chr7:7746200-7747800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:7746200-7747800	Enhancers	HSMMtube	muscle
50	chr7:7746200-7749200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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