Variant report

Variant	rs2055683
Chromosome Location	chr7:66248382-66248383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12056129	0.81[EUR][1000 genomes]
rs12535669	0.81[EUR][1000 genomes]
rs3735151	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4717333	1.00[YRI][hapmap]
rs9638494	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv981512	chr7:66223352-66249901	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv888329	chr7:66234585-66376095	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66207000-66255200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:66231400-66255000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:66232600-66279800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:66234800-66275800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:66235200-66261400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:66235400-66255400	Weak transcription	Fetal Heart	heart
7	chr7:66236000-66259000	Strong transcription	NHDF-Ad	bronchial
8	chr7:66236800-66265200	Strong transcription	Primary B cells from peripheral blood	blood
9	chr7:66236800-66276800	Strong transcription	Dnd41	blood
10	chr7:66236800-66277000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr7:66236800-66278400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:66237200-66262400	Weak transcription	Fetal Brain Male	brain
13	chr7:66237200-66277600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:66238000-66253800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr7:66238200-66248800	Strong transcription	Primary B cells from cord blood	blood
16	chr7:66238200-66252800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:66238200-66252800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:66238200-66276600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr7:66238400-66252800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr7:66238400-66252800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:66238600-66249200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:66238600-66255200	Weak transcription	Stomach Mucosa	stomach
23	chr7:66239800-66254800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:66240400-66260000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:66241000-66254800	Weak transcription	A549	lung
26	chr7:66241400-66250200	Weak transcription	Brain Angular Gyrus	brain
27	chr7:66241800-66249000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:66242000-66252000	Weak transcription	Ovary	ovary
29	chr7:66242000-66255200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:66242200-66250200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:66242200-66251400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr7:66242200-66251600	Weak transcription	Small Intestine	intestine
33	chr7:66242200-66254800	Weak transcription	Aorta	Aorta
34	chr7:66242200-66254800	Weak transcription	Spleen	Spleen
35	chr7:66242200-66255000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr7:66242200-66255000	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:66242200-66255400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:66242200-66260000	Weak transcription	Psoas Muscle	Psoas
39	chr7:66242400-66248600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:66242400-66262600	Weak transcription	Colonic Mucosa	Colon
41	chr7:66242800-66250200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr7:66243400-66255000	Weak transcription	Brain Germinal Matrix	brain
43	chr7:66243600-66249800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr7:66243600-66255200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:66243600-66263200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr7:66243800-66250000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:66243800-66251800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr7:66244000-66249200	Weak transcription	Placenta	Placenta
49	chr7:66244000-66254800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:66244600-66249200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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