Variant report

Variant	rs17687994
Chromosome Location	chr7:39622484-39622485
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39620191..39622665-chr7:39628141..39629776,2	K562	blood:
2	chr7:39621618..39625232-chr7:39625771..39627613,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RALA-3	chr7:39622404-39622930	NONHSAT120209

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17171603	0.94[EUR][1000 genomes]
rs17620556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2329455	0.94[EUR][1000 genomes]
rs58299139	0.94[EUR][1000 genomes]
rs73375695	0.94[EUR][1000 genomes]
rs7785964	0.94[EUR][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	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39607000-39623800	Weak transcription	Pancreas	Pancrea
2	chr7:39607000-39631400	Weak transcription	Aorta	Aorta
3	chr7:39607200-39623200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:39607200-39628800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:39607200-39629000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:39607600-39628600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:39607600-39629400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:39607800-39623400	Weak transcription	NHEK	skin
9	chr7:39610800-39628800	Weak transcription	GM12878-XiMat	blood
10	chr7:39612200-39627000	Weak transcription	NHLF	lung
11	chr7:39612400-39626600	Weak transcription	HSMM	muscle
12	chr7:39612400-39628000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:39612600-39628000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr7:39612600-39629200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:39613400-39628800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:39613800-39627600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:39613800-39628800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:39613800-39629000	Weak transcription	HMEC	breast
19	chr7:39614000-39623000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr7:39614200-39629200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:39614800-39622800	Weak transcription	Left Ventricle	heart
22	chr7:39614800-39629200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr7:39616400-39627800	Weak transcription	Adipose Nuclei	Adipose
24	chr7:39616400-39629000	Weak transcription	Osteobl	bone
25	chr7:39617000-39628200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:39617200-39629600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:39617400-39623400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:39617400-39626800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:39617400-39629000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:39618400-39629000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:39618400-39633000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:39618800-39626400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:39619000-39622800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:39619000-39628200	Weak transcription	Primary T cells from cord blood	blood
35	chr7:39619000-39629000	Weak transcription	Fetal Thymus	thymus
36	chr7:39619400-39622800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr7:39619600-39629000	Weak transcription	Fetal Muscle Leg	muscle
38	chr7:39619800-39626400	Weak transcription	Fetal Stomach	stomach
39	chr7:39620400-39623200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:39620400-39628600	Weak transcription	NH-A	brain
41	chr7:39620600-39622600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:39620600-39623000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:39620600-39623000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr7:39620600-39623200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr7:39620600-39623200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr7:39620600-39623200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr7:39620600-39623200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr7:39620600-39628000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr7:39620600-39628800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:39620800-39623400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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