Variant report

Variant	rs72942938
Chromosome Location	chr2:97591131-97591132
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97587758..97596829-chr2:97597446..97601811,11	K562	blood:
2	chr2:97522694..97525971-chr2:97587998..97591660,3	K562	blood:
3	chr2:97583057..97585198-chr2:97588467..97591915,3	K562	blood:
4	chr2:97548252..97550212-chr2:97588588..97591450,2	MCF-7	breast:
5	chr2:97589310..97591841-chr2:97591978..97596020,4	MCF-7	breast:
6	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
7	chr2:97588776..97591371-chr2:97597850..97600657,3	MCF-7	breast:
8	chr2:97556750..97558871-chr2:97588696..97591655,2	MCF-7	breast:
9	chr2:97556985..97558977-chr2:97588786..97591585,2	K562	blood:
10	chr2:97584997..97587138-chr2:97589413..97591489,2	MCF-7	breast:
11	chr2:97590809..97593385-chr2:97597939..97599860,2	MCF-7	breast:
12	chr2:97590638..97593151-chr2:97603890..97606956,4	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNNM3-1	chr2:97589781-97591573	ENSG00000246515
2	lnc-CNNM3-1	chr2:97589781-97591574	NONHSAT072593

No data

Variant related genes	Relation type
ENSG00000213337	Chromatin interaction
ENSG00000163126	Chromatin interaction
ENSG00000168758	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv582497	chr2:97569305-97715154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS 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	18 gene(s)	inside rSNPs	diseases
10	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
12	nsv1001432	chr2:97591069-97671395	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97582600-97593000	Weak transcription	Right Atrium	heart
2	chr2:97587000-97592200	Weak transcription	Brain Germinal Matrix	brain
3	chr2:97589400-97593800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:97589600-97591200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr2:97589600-97591200	Enhancers	Fetal Heart	heart
6	chr2:97589600-97591400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr2:97589600-97591600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr2:97589600-97593200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:97589800-97591200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr2:97589800-97591200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr2:97589800-97591200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr2:97589800-97591200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr2:97589800-97591400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:97589800-97595200	Enhancers	Fetal Brain Male	brain
15	chr2:97590000-97591600	Enhancers	K562	blood
16	chr2:97590000-97592200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:97590200-97591400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:97590400-97592800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:97590400-97593200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:97590600-97591200	Enhancers	Fetal Stomach	stomach
21	chr2:97590600-97591200	Enhancers	Rectal Smooth Muscle	rectum
22	chr2:97590600-97591600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:97590600-97592200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:97590600-97592200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:97590600-97593600	Enhancers	Brain Angular Gyrus	brain
26	chr2:97590800-97591200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:97590800-97591200	Enhancers	Fetal Thymus	thymus
28	chr2:97590800-97592800	Enhancers	Colon Smooth Muscle	Colon
29	chr2:97590800-97592800	Weak transcription	Spleen	Spleen
30	chr2:97590800-97593200	Weak transcription	Fetal Lung	lung
31	chr2:97591000-97591400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:97591000-97591400	Enhancers	Brain Substantia Nigra	brain
33	chr2:97591000-97591400	Enhancers	Stomach Smooth Muscle	stomach
34	chr2:97591000-97591600	Enhancers	Primary T cells from cord blood	blood
35	chr2:97591000-97591600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:97591000-97591600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr2:97591000-97591600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:97591000-97591600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:97591000-97592400	Enhancers	Brain Anterior Caudate	brain
40	chr2:97591000-97592400	Weak transcription	Fetal Brain Female	brain
41	chr2:97591000-97592800	Enhancers	Brain Hippocampus Middle	brain
42	chr2:97591000-97593200	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:97591000-97593200	Enhancers	Brain Inferior Temporal Lobe	brain

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