Variant report

Variant	rs34738006
Chromosome Location	chr2:95710096-95710097
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:95698656..95702870-chr2:95706305..95711036,7	MCF-7	breast:
2	chr2:95709205..95712066-chr2:95717401..95720644,4	MCF-7	breast:
3	chr2:95686313..95689732-chr2:95706916..95710668,3	MCF-7	breast:
4	chr2:95709391..95710951-chr2:95786322..95787874,2	MCF-7	breast:
5	chr2:95695099..95696746-chr2:95709932..95711580,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAL-1	chr2:95710041-95710378	NONHSAT072458

Variant related genes	Relation type
ENSG00000231062	Chromatin interaction
ENSG00000144029	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs35391246	1.00[AMR][1000 genomes]
rs35803313	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71427025	1.00[AMR][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	nsv1000661	chr2:95327875-95739468	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1003666	chr2:95618109-95772924	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95698400-95710400	Enhancers	Brain Substantia Nigra	brain
2	chr2:95700000-95710200	Enhancers	Brain Cingulate Gyrus	brain
3	chr2:95702600-95711200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:95703000-95712400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:95705800-95719000	Enhancers	GM12878-XiMat	blood
6	chr2:95705800-95721600	Genic enhancers	Fetal Thymus	thymus
7	chr2:95706200-95723800	Weak transcription	Fetal Kidney	kidney
8	chr2:95706400-95710600	Enhancers	Fetal Muscle Leg	muscle
9	chr2:95706400-95717600	Genic enhancers	Thymus	Thymus
10	chr2:95706600-95710600	Enhancers	Stomach Mucosa	stomach
11	chr2:95707200-95710200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr2:95707400-95711400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:95708200-95710600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:95708200-95711200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr2:95708400-95711200	Enhancers	Primary hematopoietic stem cells	blood
16	chr2:95708600-95711000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:95708600-95711400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr2:95708600-95712200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:95708800-95711600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:95709000-95711600	Strong transcription	Dnd41	blood
21	chr2:95709200-95713600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:95709200-95715000	Weak transcription	Spleen	Spleen
23	chr2:95709400-95710200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:95709400-95710200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:95709400-95710200	Enhancers	Brain Hippocampus Middle	brain
26	chr2:95709400-95712200	Strong transcription	Primary T cells from cord blood	blood
27	chr2:95709400-95720200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:95709600-95710400	Weak transcription	Lung	lung
29	chr2:95709600-95710800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:95709600-95712400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr2:95709600-95724000	Weak transcription	Pancreas	Pancrea
32	chr2:95709800-95710200	Enhancers	Placenta	Placenta
33	chr2:95709800-95710200	Enhancers	HSMM	muscle
34	chr2:95709800-95710400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr2:95709800-95710400	Enhancers	Fetal Lung	lung
36	chr2:95709800-95710600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:95709800-95712000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:95709800-95712000	Weak transcription	Esophagus	oesophagus
39	chr2:95709800-95713600	Weak transcription	Gastric	stomach
40	chr2:95709800-95714200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:95709800-95718000	Weak transcription	Brain Angular Gyrus	brain
42	chr2:95710000-95711200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:95710000-95712200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:95710000-95715800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:95710000-95716600	Weak transcription	Brain Anterior Caudate	brain

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