Variant report

Variant	rs4326887
Chromosome Location	chr12:10375888-10375889
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:10372534-10377685	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:10375288-10377085	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:10374583-10377702	IMR90	lung:	n/a	n/a
4	POLR2A	chr12:10375406-10377691	K562	blood:	n/a	n/a
5	POLR2A	chr12:10375809-10376512	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr12:10372283-10377246	A549	lung:	n/a	n/a
7	POLR2A	chr12:10375668-10377520	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
KLRD1	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11053720	0.86[JPT][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap]
rs4763487	0.91[JPT][hapmap];0.85[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1054811	chr12:10350587-10440005	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10366800-10386600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:10368400-10377000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:10368400-10378400	Weak transcription	Fetal Heart	heart
4	chr12:10368400-10378600	Weak transcription	Stomach Mucosa	stomach
5	chr12:10368400-10380200	Weak transcription	GM12878-XiMat	blood
6	chr12:10368400-10380400	Weak transcription	Dnd41	blood
7	chr12:10369000-10376000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:10369000-10376600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:10369000-10377800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:10369200-10377200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:10369400-10377000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:10369400-10377600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:10370000-10377200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:10370200-10376600	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:10370200-10377200	Strong transcription	Fetal Stomach	stomach
16	chr12:10370400-10376600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr12:10370600-10376600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr12:10370600-10377000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:10370600-10377000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:10370600-10377200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr12:10370600-10377200	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr12:10370600-10377200	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:10370600-10377200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:10370600-10377200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr12:10370600-10377600	Strong transcription	Fetal Muscle Leg	muscle
26	chr12:10370800-10376800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:10371200-10376800	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr12:10371200-10377200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:10371200-10377600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:10371400-10376600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:10371400-10377600	Strong transcription	Ovary	ovary
32	chr12:10371600-10376400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:10371600-10377000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:10371600-10377200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:10371600-10377200	Strong transcription	Lung	lung
36	chr12:10371600-10377600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:10371800-10376200	Strong transcription	Fetal Thymus	thymus
38	chr12:10371800-10376400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
39	chr12:10371800-10376600	Strong transcription	Brain Germinal Matrix	brain
40	chr12:10371800-10376600	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:10371800-10377000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:10371800-10377000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:10371800-10377000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr12:10371800-10377000	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr12:10371800-10377200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:10371800-10377200	Strong transcription	Fetal Brain Female	brain
47	chr12:10371800-10377200	Strong transcription	HSMMtube	muscle
48	chr12:10372000-10377200	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr12:10372200-10376400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:10372200-10377000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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