Variant report

Variant	rs56007906
Chromosome Location	chr7:127979915-127979916
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:127979912-127980058	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127978973..127980473-chr7:128029523..128031461,2	MCF-7	breast:
2	chr7:127977477..127980140-chr7:127988109..127989826,2	K562	blood:

Variant related genes	Relation type
RBM28	TF binding region
RNU7-27P	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11069	0.98[EUR][1000 genomes]
rs17151983	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151987	1.00[EUR][1000 genomes]
rs17151996	0.98[EUR][1000 genomes]
rs17152000	1.00[EUR][1000 genomes]
rs17152002	1.00[EUR][1000 genomes]
rs2402890	1.00[EUR][1000 genomes]
rs41281728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41281731	1.00[EUR][1000 genomes]
rs55667068	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55913412	1.00[EUR][1000 genomes]
rs56387418	1.00[AFR][1000 genomes]
rs6467170	0.98[EUR][1000 genomes]
rs6467174	0.98[EUR][1000 genomes]
rs6952533	0.98[EUR][1000 genomes]
rs6980001	0.98[EUR][1000 genomes]
rs6980301	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs723627	1.00[EUR][1000 genomes]
rs73226694	1.00[AFR][1000 genomes]
rs73226697	1.00[AFR][1000 genomes]
rs73226699	1.00[AFR][1000 genomes]
rs73228315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73230631	1.00[EUR][1000 genomes]
rs73230632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230633	1.00[EUR][1000 genomes]
rs73230642	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230656	1.00[EUR][1000 genomes]
rs73230657	0.98[EUR][1000 genomes]
rs73230659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73721355	1.00[EUR][1000 genomes]
rs73721362	1.00[EUR][1000 genomes]
rs7800186	0.98[EUR][1000 genomes]
rs7804796	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127939600-127982200	Weak transcription	Stomach Mucosa	stomach
2	chr7:127940000-127980800	Strong transcription	Fetal Muscle Trunk	muscle
3	chr7:127940400-127980000	Strong transcription	Stomach Smooth Muscle	stomach
4	chr7:127940600-127980000	Strong transcription	Liver	Liver
5	chr7:127941600-127980000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:127942000-127980400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:127942000-127980600	Strong transcription	Fetal Muscle Leg	muscle
8	chr7:127943000-127981200	Strong transcription	Dnd41	blood
9	chr7:127943000-127982000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:127943200-127980400	Strong transcription	Duodenum Mucosa	Duodenum
11	chr7:127943200-127981600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:127943400-127980000	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:127943400-127980000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:127943400-127980000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:127943400-127981400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr7:127943400-127981600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:127944400-127980000	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr7:127944400-127980000	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr7:127944400-127980200	Strong transcription	Placenta	Placenta
20	chr7:127944400-127980600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr7:127945200-127980000	Strong transcription	GM12878-XiMat	blood
22	chr7:127949600-127980000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr7:127953800-127982600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:127955600-127980000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:127955800-127982800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:127958000-127980600	Strong transcription	K562	blood
27	chr7:127961400-127980000	Strong transcription	Fetal Thymus	thymus
28	chr7:127961600-127980000	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:127962200-127980600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr7:127962400-127980200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr7:127963000-127980000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:127963000-127980400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:127963200-127980000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:127963400-127981200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:127963800-127980600	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr7:127964600-127980000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:127964600-127981000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr7:127964600-127981200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr7:127966000-127980000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:127970000-127980600	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr7:127970200-127980000	Strong transcription	HMEC	breast
42	chr7:127970200-127981400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:127970600-127980000	Strong transcription	Primary B cells from cord blood	blood
44	chr7:127970600-127980000	Strong transcription	HSMM	muscle
45	chr7:127970600-127981400	Strong transcription	Primary T cells from cord blood	blood
46	chr7:127970800-127980000	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr7:127972000-127980000	Strong transcription	Adipose Nuclei	Adipose
48	chr7:127972200-127980600	Strong transcription	Left Ventricle	heart
49	chr7:127972400-127982000	Weak transcription	Right Atrium	heart
50	chr7:127973000-127980000	Strong transcription	Primary T killer memory cells from peripheral blood	blood

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