Variant report

Variant	rs2874133
Chromosome Location	chr14:68267643-68267644
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68267192..68268818-chr14:68283235..68285455,2	K562	blood:
2	chr14:68267290..68268818-chr14:68283235..68284763,2	K562	blood:

Variant related genes	Relation type
ENSG00000072121	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10141638	1.00[JPT][hapmap];0.85[YRI][hapmap]
rs1040598	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs11158694	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs11621019	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs11621258	1.00[JPT][hapmap]
rs11626332	1.00[JPT][hapmap]
rs11626769	1.00[JPT][hapmap]
rs11848769	1.00[JPT][hapmap]
rs11850946	1.00[JPT][hapmap]
rs12432558	1.00[JPT][hapmap]
rs12433710	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs12433779	1.00[JPT][hapmap]
rs12891164	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs12893157	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs1543391	0.91[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs17192558	1.00[JPT][hapmap]
rs17192586	1.00[JPT][hapmap]
rs17783094	1.00[JPT][hapmap]
rs17783304	1.00[JPT][hapmap]
rs1810523	0.91[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs181561	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs181564	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs181565	1.00[JPT][hapmap]
rs181570	0.87[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs181576	0.87[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs2235966	0.90[CEU][hapmap]
rs2235967	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs2295106	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs2295107	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs2874132	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs3742879	1.00[JPT][hapmap]
rs4143685	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs7142433	0.91[CEU][hapmap];0.84[YRI][hapmap]
rs7143196	1.00[JPT][hapmap]
rs7143496	0.91[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs7145044	1.00[JPT][hapmap]
rs7149482	1.00[JPT][hapmap]
rs7150705	1.00[JPT][hapmap]
rs7151495	1.00[JPT][hapmap]
rs7159622	0.91[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs8011120	0.90[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68212400-68282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:68213000-68280800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:68213400-68281200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:68213600-68279600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr14:68213800-68280600	Strong transcription	Liver	Liver
6	chr14:68214600-68281000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:68214800-68276200	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr14:68214800-68280200	Strong transcription	Fetal Thymus	thymus
9	chr14:68220200-68273000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:68224800-68281000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:68225000-68281000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:68226200-68281000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:68226400-68272800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:68226400-68273200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:68226400-68276000	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:68226400-68277800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:68226400-68278200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:68226400-68279800	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:68226400-68280600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr14:68226400-68280800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:68226400-68280800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:68226400-68281000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:68226800-68280800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:68229200-68272800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:68229200-68281200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:68229800-68281000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr14:68230800-68280200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:68231600-68280800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:68232200-68279600	Strong transcription	Fetal Intestine Large	intestine
30	chr14:68232600-68280000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:68232800-68276800	Strong transcription	Fetal Intestine Small	intestine
32	chr14:68232800-68280800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr14:68233800-68280800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:68233800-68280800	Strong transcription	Placenta	Placenta
35	chr14:68234200-68280200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr14:68234600-68278000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr14:68234600-68280200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr14:68237800-68277800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:68252200-68280400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr14:68252600-68277800	Strong transcription	Left Ventricle	heart
41	chr14:68252800-68277800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr14:68253400-68267800	Weak transcription	K562	blood
43	chr14:68254600-68281000	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr14:68255200-68276000	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr14:68257600-68268800	Weak transcription	Psoas Muscle	Psoas
46	chr14:68259000-68280600	Strong transcription	Adipose Nuclei	Adipose
47	chr14:68259000-68280800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr14:68259200-68280800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr14:68259200-68281000	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr14:68259400-68272600	Strong transcription	Osteobl	bone

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