Variant report

Variant	rs149646258
Chromosome Location	chr5:126126637-126126638
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126112394..126114255-chr5:126124910..126128811,3	MCF-7	breast:
2	chr5:126111624..126114477-chr5:126126554..126131251,6	K562	blood:
3	chr5:126125295..126130824-chr5:126132329..126136999,5	K562	blood:
4	chr5:126121325..126123278-chr5:126123721..126126888,3	K562	blood:

Variant related genes	Relation type
ENSG00000113368	Chromatin interaction
ENSG00000251072	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv916675	chr5:126122436-126133000	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
4	nsv533306	chr5:126122436-126137162	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	esv3470683	chr5:126125880-126127825	Flanking Active TSS Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	esv3470684	chr5:126125880-126127825	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	esv19718	chr5:126126121-126127463	Weak transcription Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126114600-126141600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:126114600-126142000	Weak transcription	Spleen	Spleen
3	chr5:126114600-126161600	Weak transcription	Ovary	ovary
4	chr5:126115000-126140400	Weak transcription	Fetal Intestine Large	intestine
5	chr5:126115800-126131800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:126115800-126137400	Weak transcription	HSMM	muscle
7	chr5:126115800-126145800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:126116000-126141600	Weak transcription	Fetal Stomach	stomach
9	chr5:126116400-126128600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:126116400-126128600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:126116400-126128800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:126116400-126128800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:126116400-126130000	Weak transcription	Fetal Lung	lung
14	chr5:126116400-126137000	Weak transcription	Primary T cells from cord blood	blood
15	chr5:126116400-126140000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:126116400-126140200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:126116400-126140200	Weak transcription	Thymus	Thymus
18	chr5:126116400-126141000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:126116400-126143400	Weak transcription	Primary B cells from cord blood	blood
20	chr5:126116600-126131400	Weak transcription	Fetal Intestine Small	intestine
21	chr5:126116600-126140000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:126116600-126147800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:126116800-126128000	Weak transcription	HUVEC	blood vessel
24	chr5:126116800-126128600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:126117000-126135000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:126117000-126140800	Weak transcription	Fetal Brain Female	brain
27	chr5:126117800-126128400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr5:126117800-126128800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:126117800-126141200	Weak transcription	Brain Germinal Matrix	brain
30	chr5:126118000-126128800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr5:126118000-126137200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:126121000-126132400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:126121400-126128800	Strong transcription	Fetal Thymus	thymus
34	chr5:126122600-126141000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr5:126123000-126132000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:126123000-126132000	Weak transcription	Hela-S3	cervix
37	chr5:126124000-126133200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:126124000-126140200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:126124200-126140200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr5:126124400-126127400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr5:126124400-126127800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:126124400-126128600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:126124400-126129200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr5:126124400-126129600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:126124400-126135200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr5:126124400-126140400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr5:126124600-126128600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr5:126124600-126129800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr5:126124800-126130000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:126124800-126133600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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