Variant report

Variant	rs4661096
Chromosome Location	chr1:155999571-155999572
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155989348..155992216-chr1:155996546..156001769,5	MCF-7	breast:
2	chr1:155989136..155991792-chr1:155998361..156000706,2	MCF-7	breast:
3	chr1:155998312..156002867-chr1:156021277..156026381,6	K562	blood:
4	chr1:155989375..155992569-chr1:155997687..156003698,6	K562	blood:
5	chr1:155988173..156003032-chr1:156020965..156026206,23	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163479	Chromatin interaction
ENSG00000116586	Chromatin interaction
ENSG00000160803	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10158536	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs10752614	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs10796957	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs12080245	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1804478	1.00[TSI][hapmap]

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	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4661096	HBG1	trans	brain	seeQTL
rs4661096	HBG2	trans	brain	seeQTL

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155990800-156006000	Weak transcription	Spleen	Spleen
2	chr1:155990800-156006800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:155991000-156002600	Weak transcription	NHLF	lung
4	chr1:155991000-156005800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:155991000-156011600	Weak transcription	Colonic Mucosa	Colon
6	chr1:155991200-156002800	Weak transcription	NH-A	brain
7	chr1:155991200-156005600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:155991200-156005600	Weak transcription	Brain Angular Gyrus	brain
9	chr1:155991200-156005800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:155991200-156005800	Weak transcription	Liver	Liver
11	chr1:155991200-156005800	Weak transcription	Brain Anterior Caudate	brain
12	chr1:155991200-156005800	Weak transcription	Fetal Thymus	thymus
13	chr1:155991200-156006000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:155991200-156006000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:155991200-156006600	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:155991200-156006600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:155991200-156010800	Weak transcription	Fetal Heart	heart
18	chr1:155991200-156020000	Weak transcription	GM12878-XiMat	blood
19	chr1:155992200-156005800	Weak transcription	Dnd41	blood
20	chr1:155994800-156005800	Weak transcription	Brain Germinal Matrix	brain
21	chr1:155995800-156004400	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:155996000-156002600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:155996000-156005600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:155996000-156005600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:155996000-156005800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:155996000-156005800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:155996000-156005800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:155996000-156010400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:155996200-155999600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:155996200-155999600	Weak transcription	HepG2	liver
31	chr1:155996200-156000000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:155996200-156005400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:155996200-156005400	Weak transcription	Placenta	Placenta
34	chr1:155996200-156005600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:155996200-156005800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:155996200-156005800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:155996200-156005800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:155996200-156005800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:155996200-156005800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:155996200-156005800	Weak transcription	Adipose Nuclei	Adipose
41	chr1:155996200-156005800	Weak transcription	Fetal Intestine Large	intestine
42	chr1:155996200-156005800	Weak transcription	Fetal Intestine Small	intestine
43	chr1:155996200-156005800	Weak transcription	Lung	lung
44	chr1:155996200-156005800	Weak transcription	Pancreas	Pancrea
45	chr1:155996200-156005800	Weak transcription	A549	lung
46	chr1:155996200-156005800	Weak transcription	K562	blood
47	chr1:155996200-156006000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:155996200-156006000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:155996200-156006000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:155996200-156006200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links