Variant report

Variant	rs6870370
Chromosome Location	chr5:95250892-95250893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95249666..95252549-chr5:95296490..95298581,2	K562	blood:
2	chr5:95248637..95251285-chr5:95252378..95254672,2	K562	blood:
3	chr5:95249774..95251634-chr5:95252118..95254823,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251314	Chromatin interaction
ENSG00000118985	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11135441	0.85[AMR][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	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6870370	ELL2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95214400-95251800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:95221600-95252200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr5:95222000-95252200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:95223000-95259800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:95226400-95263600	Weak transcription	Colonic Mucosa	Colon
6	chr5:95227400-95251600	Weak transcription	Primary T cells from cord blood	blood
7	chr5:95227400-95253800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr5:95231200-95254000	Weak transcription	Fetal Stomach	stomach
9	chr5:95232400-95255200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr5:95234200-95251800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr5:95234400-95251800	Weak transcription	Fetal Thymus	thymus
12	chr5:95235000-95251800	Weak transcription	Primary B cells from cord blood	blood
13	chr5:95236000-95251600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:95236200-95254200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:95236400-95276600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:95236800-95260000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:95237800-95251800	Weak transcription	K562	blood
18	chr5:95238200-95260400	Weak transcription	A549	lung
19	chr5:95238200-95282000	Weak transcription	HUVEC	blood vessel
20	chr5:95239400-95252000	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr5:95239600-95253200	Strong transcription	Osteobl	bone
22	chr5:95241000-95252000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:95242600-95251000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr5:95242600-95251800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:95242600-95251800	Weak transcription	Spleen	Spleen
26	chr5:95242600-95259000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr5:95242600-95259800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr5:95243000-95255600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:95243000-95256800	Enhancers	Brain Substantia Nigra	brain
30	chr5:95243400-95251200	Weak transcription	Esophagus	oesophagus
31	chr5:95243400-95278800	Weak transcription	Lung	lung
32	chr5:95243600-95274200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr5:95244400-95258600	Weak transcription	Fetal Intestine Large	intestine
34	chr5:95244800-95251400	Weak transcription	Stomach Mucosa	stomach
35	chr5:95244800-95260600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr5:95245000-95251200	Weak transcription	HSMMtube	muscle
37	chr5:95245000-95254600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:95245000-95256400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:95245200-95252200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:95245200-95259000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:95245400-95251800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:95245600-95251400	Weak transcription	Psoas Muscle	Psoas
43	chr5:95245600-95252600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:95245800-95251800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr5:95245800-95252400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:95245800-95255800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:95245800-95256200	Strong transcription	NHEK	skin
48	chr5:95246000-95252400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr5:95246400-95251800	Weak transcription	Ovary	ovary
50	chr5:95246400-95266400	Weak transcription	NHDF-Ad	bronchial

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