Variant report

Variant	rs12143545
Chromosome Location	chr1:97276238-97276239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:97271243..97273123-chr1:97276004..97278150,3	K562	blood:
2	chr1:97271243..97272760-chr1:97276004..97278150,2	K562	blood:

Variant related genes	Relation type
ENSG00000117569	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12077060	1.00[ASN][1000 genomes]
rs12129113	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12130457	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12131988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12143464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1489806	1.00[ASN][1000 genomes]
rs273881	1.00[ASN][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	nsv830681	chr1:97165786-97338064	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv1797391	chr1:97188394-97293023	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv1801594	chr1:97188394-97293023	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97200800-97282800	Weak transcription	Spleen	Spleen
2	chr1:97213800-97281400	Weak transcription	Right Ventricle	heart
3	chr1:97218800-97278800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:97219000-97283200	Weak transcription	Aorta	Aorta
5	chr1:97219000-97291200	Weak transcription	Pancreas	Pancrea
6	chr1:97219600-97283600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:97221600-97277000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:97228600-97277000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:97228600-97289400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:97240200-97282800	Weak transcription	Brain Germinal Matrix	brain
11	chr1:97240600-97292400	Weak transcription	Lung	lung
12	chr1:97240800-97281400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:97246800-97284000	Weak transcription	Ovary	ovary
14	chr1:97247200-97278600	Weak transcription	Psoas Muscle	Psoas
15	chr1:97249600-97278200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:97252200-97283200	Weak transcription	Fetal Brain Male	brain
17	chr1:97252600-97277200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr1:97252600-97279000	Weak transcription	Fetal Kidney	kidney
19	chr1:97252800-97279000	Weak transcription	Colonic Mucosa	Colon
20	chr1:97252800-97280600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:97253000-97281600	Weak transcription	Thymus	Thymus
22	chr1:97253600-97277600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:97254800-97293600	Weak transcription	GM12878-XiMat	blood
24	chr1:97258800-97292200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:97262800-97279600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:97266400-97279800	Weak transcription	Gastric	stomach
27	chr1:97266600-97277200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:97267000-97283200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:97267400-97289400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:97267400-97300800	Weak transcription	Fetal Stomach	stomach
31	chr1:97267800-97291000	Weak transcription	Fetal Intestine Small	intestine
32	chr1:97268200-97282400	Strong transcription	Dnd41	blood
33	chr1:97268400-97286600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:97269200-97282600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:97269800-97282800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:97270000-97285600	Weak transcription	Brain Substantia Nigra	brain
37	chr1:97270400-97280400	Weak transcription	Small Intestine	intestine
38	chr1:97270400-97282600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:97270400-97283200	Weak transcription	Brain Angular Gyrus	brain
40	chr1:97270400-97293400	Weak transcription	HSMMtube	muscle
41	chr1:97270400-97295800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:97270600-97279800	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:97270600-97282400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:97270600-97282600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:97270600-97285800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:97270600-97291400	Weak transcription	Left Ventricle	heart
47	chr1:97270800-97283800	Weak transcription	Brain Anterior Caudate	brain
48	chr1:97271600-97281800	Strong transcription	NHDF-Ad	bronchial
49	chr1:97271800-97277400	Weak transcription	HepG2	liver
50	chr1:97271800-97279400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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