Variant report

Variant	rs530696042
Chromosome Location	chr2:10702426-10702427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10699769..10703142-chr2:10704473..10707229,3	K562	blood:
2	chr2:10586592..10589799-chr2:10701839..10704499,3	K562	blood:
3	chr2:10587804..10589799-chr2:10701094..10703339,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HPCAL1-2	chr2:10702418-10702867	NONHSAT069120

Variant related genes	Relation type
ENSG00000115758	Chromatin interaction
ENSG00000257135	Chromatin interaction
ENSG00000206633	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv833370	chr2:10625149-10785402	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1009897	chr2:10627248-10751468	Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv873661	chr2:10675549-10703476	Bivalent Enhancer Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv525241	chr2:10684391-10703476	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv522123	chr2:10696583-10705639	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3457339	chr2:10702380-10706604	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3457338	chr2:10702420-10706592	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10688200-10708800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:10689200-10710600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:10692200-10709600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:10692600-10705400	Weak transcription	Fetal Thymus	thymus
5	chr2:10693000-10708800	Weak transcription	NHEK	skin
6	chr2:10694200-10710000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:10695400-10704600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:10696000-10704400	Weak transcription	Lung	lung
9	chr2:10696000-10709200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:10696000-10710200	Weak transcription	Left Ventricle	heart
11	chr2:10696600-10710000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:10697600-10704600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:10697600-10705000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:10697600-10708800	Weak transcription	Thymus	Thymus
15	chr2:10697800-10705600	Weak transcription	Brain Anterior Caudate	brain
16	chr2:10698000-10709000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:10698200-10706000	Weak transcription	Brain Angular Gyrus	brain
18	chr2:10698200-10706000	Weak transcription	NH-A	brain
19	chr2:10698200-10709000	Weak transcription	Dnd41	blood
20	chr2:10698200-10709800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:10698400-10705200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:10698600-10705000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:10698600-10736600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:10698800-10704400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:10698800-10709200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:10698800-10710400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:10699000-10705800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:10699000-10706200	Weak transcription	Gastric	stomach
29	chr2:10699000-10707400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:10699000-10709000	Weak transcription	Esophagus	oesophagus
31	chr2:10699000-10709400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:10699000-10709800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:10699200-10705400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:10699200-10705800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:10699200-10708800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:10699200-10709200	Weak transcription	Liver	Liver
37	chr2:10699400-10705400	Weak transcription	HSMMtube	muscle
38	chr2:10699400-10706000	Weak transcription	Primary B cells from cord blood	blood
39	chr2:10699400-10709000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:10699400-10711000	Weak transcription	GM12878-XiMat	blood
41	chr2:10699400-10716200	Weak transcription	Fetal Brain Male	brain
42	chr2:10699600-10704600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr2:10699600-10704800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:10699600-10709000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:10699800-10705800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr2:10700400-10708800	Weak transcription	Fetal Intestine Large	intestine
47	chr2:10700600-10704400	Weak transcription	A549	lung
48	chr2:10700800-10704600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:10700800-10708800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:10700800-10709800	Weak transcription	Placenta	Placenta

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