Variant report

Variant	rs6980001
Chromosome Location	chr7:127951366-127951367
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127951265..127954453-chr7:127955639..127958249,3	K562	blood:
2	chr7:127950241..127952474-chr7:127982416..127983997,2	K562	blood:
3	chr7:127948906..127951419-chr7:127962953..127965286,2	K562	blood:
4	chr7:127950205..127952739-chr7:127982416..127985877,4	K562	blood:

Variant related genes	Relation type
ENSG00000238750	Chromatin interaction
ENSG00000106344	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11069	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17151983	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17151987	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17151996	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17152000	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17152002	1.00[CEU][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2402890	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41281728	0.98[EUR][1000 genomes]
rs41281731	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55667068	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55913412	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56007906	0.98[EUR][1000 genomes]
rs6467170	0.96[EUR][1000 genomes]
rs6467174	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6952533	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6980301	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs723627	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73228315	0.81[EUR][1000 genomes]
rs73230631	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73230632	0.98[EUR][1000 genomes]
rs73230633	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73230642	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73230649	0.98[EUR][1000 genomes]
rs73230652	0.98[EUR][1000 genomes]
rs73230654	0.98[EUR][1000 genomes]
rs73230656	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73230657	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73230659	0.98[EUR][1000 genomes]
rs73721355	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73721362	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7800186	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7804796	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127939400-127962800	Weak transcription	Right Atrium	heart
2	chr7:127939600-127982200	Weak transcription	Stomach Mucosa	stomach
3	chr7:127940000-127980800	Strong transcription	Fetal Muscle Trunk	muscle
4	chr7:127940200-127953000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:127940200-127953800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:127940200-127955600	Strong transcription	Fetal Stomach	stomach
7	chr7:127940400-127955400	Strong transcription	Aorta	Aorta
8	chr7:127940400-127980000	Strong transcription	Stomach Smooth Muscle	stomach
9	chr7:127940600-127980000	Strong transcription	Liver	Liver
10	chr7:127940800-127955200	Strong transcription	Fetal Intestine Small	intestine
11	chr7:127940800-127955400	Strong transcription	Lung	lung
12	chr7:127940800-127963800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:127940800-127971400	Strong transcription	Fetal Brain Female	brain
14	chr7:127941000-127954400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:127941000-127960400	Strong transcription	Primary T cells from cord blood	blood
16	chr7:127941400-127955400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:127941400-127963400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:127941600-127979600	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:127941600-127980000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:127941800-127954400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:127941800-127955600	Strong transcription	Thymus	Thymus
22	chr7:127942000-127980400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:127942000-127980600	Strong transcription	Fetal Muscle Leg	muscle
24	chr7:127942600-127979600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:127943000-127961400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:127943000-127964800	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:127943000-127969000	Strong transcription	Primary B cells from cord blood	blood
28	chr7:127943000-127979800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:127943000-127979800	Strong transcription	Fetal Intestine Large	intestine
30	chr7:127943000-127981200	Strong transcription	Dnd41	blood
31	chr7:127943000-127982000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:127943200-127951400	Strong transcription	Adipose Nuclei	Adipose
33	chr7:127943200-127953600	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr7:127943200-127953600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:127943200-127954600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:127943200-127959400	Strong transcription	Osteobl	bone
37	chr7:127943200-127959600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:127943200-127959800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:127943200-127960400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr7:127943200-127960600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr7:127943200-127961000	Strong transcription	Fetal Thymus	thymus
42	chr7:127943200-127980400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr7:127943200-127981600	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:127943400-127957200	Strong transcription	K562	blood
45	chr7:127943400-127961600	Strong transcription	Fetal Lung	lung
46	chr7:127943400-127979400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:127943400-127979800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:127943400-127980000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:127943400-127980000	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:127943400-127980000	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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