Variant report

Variant	rs1419428
Chromosome Location	chr7:127230276-127230277
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127226810..127231119-chr7:127290066..127293801,4	MCF-7	breast:
2	chr7:127030656..127034603-chr7:127225190..127230310,7	MCF-7	breast:
3	chr7:127227908..127231054-chr7:127231482..127236620,11	MCF-7	breast:
4	chr7:127223375..127232960-chr7:127286940..127295803,24	K562	blood:
5	chr7:127222868..127230871-chr7:127290370..127294912,16	K562	blood:
6	chr7:127223867..127227193-chr7:127227909..127230578,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197157	Chromatin interaction
ENSG00000179562	Chromatin interaction
ENSG00000106328	Chromatin interaction
ENSG00000240790	Chromatin interaction
ENSG00000048405	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12536382	0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs34029720	0.86[EUR][1000 genomes]
rs3735641	0.87[EUR][1000 genomes]
rs62483173	0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1419428	NM_175880	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127228800-127230400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr7:127229400-127230400	Enhancers	Spleen	Spleen
3	chr7:127229400-127230600	Weak transcription	Aorta	Aorta
4	chr7:127229400-127231000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:127229600-127230400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr7:127229600-127230400	Genic enhancers	Fetal Muscle Leg	muscle
7	chr7:127229600-127230400	Enhancers	Stomach Mucosa	stomach
8	chr7:127229600-127230400	Flanking Active TSS	NHDF-Ad	bronchial
9	chr7:127229600-127230800	Weak transcription	HSMMtube	muscle
10	chr7:127229600-127231000	Weak transcription	Colonic Mucosa	Colon
11	chr7:127229600-127231800	Weak transcription	Fetal Heart	heart
12	chr7:127229600-127232000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:127229600-127232200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:127229600-127241000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:127229800-127230400	Enhancers	Primary B cells from cord blood	blood
16	chr7:127229800-127230400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
17	chr7:127229800-127230400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:127229800-127230400	Genic enhancers	Placenta	Placenta
19	chr7:127229800-127230400	Strong transcription	K562	blood
20	chr7:127229800-127230600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:127229800-127230600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr7:127229800-127230600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:127229800-127230600	Weak transcription	Fetal Thymus	thymus
24	chr7:127229800-127230600	Weak transcription	Psoas Muscle	Psoas
25	chr7:127229800-127230800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:127229800-127230800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:127229800-127230800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:127229800-127230800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:127229800-127230800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:127229800-127230800	Weak transcription	Lung	lung
31	chr7:127229800-127230800	Weak transcription	Ovary	ovary
32	chr7:127229800-127231000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:127229800-127231000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:127229800-127231000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr7:127229800-127231000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr7:127229800-127231200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:127229800-127232200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:127229800-127232200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:127229800-127232800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:127229800-127232800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr7:127229800-127233800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr7:127229800-127234000	Strong transcription	Fetal Brain Female	brain
43	chr7:127229800-127237400	Weak transcription	Right Atrium	heart
44	chr7:127230000-127230400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:127230000-127230400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:127230000-127230400	Weak transcription	Liver	Liver
47	chr7:127230000-127230400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
48	chr7:127230000-127230400	Genic enhancers	Stomach Smooth Muscle	stomach
49	chr7:127230000-127230600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:127230000-127230600	Weak transcription	Duodenum Mucosa	Duodenum

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