Variant report

Variant	rs6970039
Chromosome Location	chr7:127949804-127949805
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127941056..127943858-chr7:127948197..127950566,3	K562	blood:
2	chr7:127946166..127948315-chr7:127948648..127950669,2	K562	blood:
3	chr7:127948906..127951419-chr7:127962953..127965286,2	K562	blood:
4	chr7:127938979..127940740-chr7:127949044..127951138,2	K562	blood:
5	chr7:127940674..127942545-chr7:127948588..127950322,2	MCF-7	breast:
6	chr7:127941056..127943858-chr7:127948197..127950137,2	K562	blood:

Variant related genes	Relation type
ENSG00000242261	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11554671	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs61733109	0.98[AFR][1000 genomes]
rs6467173	0.87[ASW][hapmap];0.94[LWK][hapmap];0.93[MKK][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes]
rs6948206	0.96[AFR][1000 genomes]
rs6959976	0.96[AFR][1000 genomes]
rs7799251	0.82[AFR][1000 genomes]
rs7804286	0.98[AFR][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	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
3	nsv971544	chr7:127945398-127950330	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr7:127924600-127950000	Weak transcription	Psoas Muscle	Psoas
2	chr7:127939400-127962800	Weak transcription	Right Atrium	heart
3	chr7:127939600-127982200	Weak transcription	Stomach Mucosa	stomach
4	chr7:127940000-127980800	Strong transcription	Fetal Muscle Trunk	muscle
5	chr7:127940200-127953000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:127940200-127953800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:127940200-127955600	Strong transcription	Fetal Stomach	stomach
8	chr7:127940400-127955400	Strong transcription	Aorta	Aorta
9	chr7:127940400-127980000	Strong transcription	Stomach Smooth Muscle	stomach
10	chr7:127940600-127980000	Strong transcription	Liver	Liver
11	chr7:127940800-127955200	Strong transcription	Fetal Intestine Small	intestine
12	chr7:127940800-127955400	Strong transcription	Lung	lung
13	chr7:127940800-127963800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:127940800-127971400	Strong transcription	Fetal Brain Female	brain
15	chr7:127941000-127954400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:127941000-127960400	Strong transcription	Primary T cells from cord blood	blood
17	chr7:127941400-127955400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:127941400-127963400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:127941600-127979600	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:127941600-127980000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:127941800-127954400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:127941800-127955600	Strong transcription	Thymus	Thymus
23	chr7:127942000-127980400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:127942000-127980600	Strong transcription	Fetal Muscle Leg	muscle
25	chr7:127942600-127979600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:127943000-127961400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:127943000-127964800	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:127943000-127969000	Strong transcription	Primary B cells from cord blood	blood
29	chr7:127943000-127979800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:127943000-127979800	Strong transcription	Fetal Intestine Large	intestine
31	chr7:127943000-127981200	Strong transcription	Dnd41	blood
32	chr7:127943000-127982000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:127943200-127950600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:127943200-127951400	Strong transcription	Adipose Nuclei	Adipose
35	chr7:127943200-127953600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr7:127943200-127953600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:127943200-127954600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:127943200-127959400	Strong transcription	Osteobl	bone
39	chr7:127943200-127959600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:127943200-127959800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:127943200-127960400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr7:127943200-127960600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr7:127943200-127961000	Strong transcription	Fetal Thymus	thymus
44	chr7:127943200-127980400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr7:127943200-127981600	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:127943400-127950200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:127943400-127957200	Strong transcription	K562	blood
48	chr7:127943400-127961600	Strong transcription	Fetal Lung	lung
49	chr7:127943400-127979400	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:127943400-127979800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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