Variant report

Variant	rs12623853
Chromosome Location	chr2:97003681-97003682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:96929992..96934856-chr2:96999935..97004454,8	K562	blood:
2	chr2:96929425..96932019-chr2:97003452..97006019,2	K562	blood:
3	chr2:96968671..96973165-chr2:96996066..97004511,14	MCF-7	breast:
4	chr2:97002031..97004654-chr2:97035595..97037195,2	K562	blood:

Variant related genes	Relation type
ENSG00000144028	Chromatin interaction
ENSG00000144021	Chromatin interaction
ENSG00000135956	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11544859	1.00[CHD][hapmap]
rs13415055	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs13416784	1.00[CHD][hapmap]
rs13423628	1.00[YRI][hapmap]
rs15005	1.00[CHD][hapmap]
rs17119410	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv834305	chr2:96848898-97019476	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
9	nsv508155	chr2:96934695-97138302	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97001800-97016400	Weak transcription	Spleen	Spleen
2	chr2:97002000-97006200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:97002000-97007000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:97002000-97036000	Weak transcription	Gastric	stomach
5	chr2:97002200-97004200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:97002200-97005600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:97002200-97006800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:97002200-97007200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:97002200-97008000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:97002200-97018800	Weak transcription	Right Atrium	heart
11	chr2:97002200-97037600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:97002400-97004000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr2:97002400-97005800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:97002400-97006600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:97002400-97007200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:97002400-97007200	Weak transcription	Fetal Brain Female	brain
17	chr2:97002400-97007200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:97002400-97007400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:97002400-97007400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:97002400-97007400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:97002400-97007400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:97002400-97007600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:97002400-97012600	Weak transcription	Placenta	Placenta
24	chr2:97002400-97016200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:97002400-97018800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:97002600-97003800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:97002600-97004000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:97002600-97004200	Transcr. at gene 5' and 3'	Dnd41	blood
29	chr2:97002600-97005400	Weak transcription	Osteobl	bone
30	chr2:97002600-97005600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:97002600-97006400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:97002600-97007000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:97002600-97007200	Weak transcription	Fetal Stomach	stomach
34	chr2:97002600-97007400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:97002600-97007600	Weak transcription	HSMM	muscle
36	chr2:97002600-97009800	Weak transcription	Fetal Kidney	kidney
37	chr2:97002600-97011800	Weak transcription	Small Intestine	intestine
38	chr2:97002600-97017400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:97002600-97031600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:97002800-97003800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:97002800-97006000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:97002800-97006400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:97002800-97006400	Weak transcription	NH-A	brain
44	chr2:97002800-97006600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:97002800-97006800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:97002800-97006800	Weak transcription	NHLF	lung
47	chr2:97002800-97007000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:97002800-97007200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr2:97002800-97007200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:97002800-97007200	Weak transcription	Duodenum Mucosa	Duodenum

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