Variant report

Variant	rs2857847
Chromosome Location	chr4:3046853-3046854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:3046626..3049120-chr4:3114672..3116966,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1263308	0.96[ASN][1000 genomes]
rs1263309	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1313766	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1313767	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1313769	0.96[ASN][1000 genomes]
rs1313770	0.97[ASN][1000 genomes]
rs1313772	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1313773	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1313774	0.97[ASN][1000 genomes]
rs2067003	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2471334	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2798285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2798289	0.99[ASN][1000 genomes]
rs2798296	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2798297	0.81[ASN][1000 genomes]
rs2857843	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2857846	0.99[ASN][1000 genomes]
rs2857853	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2857936	0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3021126	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv1013440	chr4:2993130-3053503	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2857847	HTT-AS1	cis	Whole Blood	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3043600-3047400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:3044000-3048600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:3044000-3049400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:3044200-3047000	Weak transcription	Primary T cells from cord blood	blood
5	chr4:3044200-3047200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr4:3044200-3049000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr4:3044200-3049400	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:3044200-3049400	Weak transcription	HUVEC	blood vessel
9	chr4:3044400-3047000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:3044400-3047000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:3044400-3047000	Weak transcription	NHDF-Ad	bronchial
12	chr4:3044400-3049200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:3044400-3049200	Weak transcription	Stomach Mucosa	stomach
14	chr4:3044400-3050800	Enhancers	Primary B cells from peripheral blood	blood
15	chr4:3044600-3047000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:3044600-3047000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:3044600-3047000	Weak transcription	Adipose Nuclei	Adipose
18	chr4:3044600-3048000	Weak transcription	Right Atrium	heart
19	chr4:3044600-3049200	Weak transcription	Brain Anterior Caudate	brain
20	chr4:3044600-3049200	Weak transcription	Lung	lung
21	chr4:3044600-3049400	Weak transcription	Gastric	stomach
22	chr4:3044800-3047200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:3044800-3050600	Enhancers	Primary B cells from cord blood	blood
24	chr4:3045000-3049200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr4:3045000-3049400	Weak transcription	Left Ventricle	heart
26	chr4:3046000-3047200	Enhancers	Fetal Intestine Large	intestine
27	chr4:3046000-3048000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr4:3046000-3049200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:3046200-3047200	Enhancers	Small Intestine	intestine
30	chr4:3046200-3047800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr4:3046200-3047800	Enhancers	Placenta	Placenta
32	chr4:3046200-3049200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:3046400-3047000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:3046400-3047000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr4:3046400-3047000	Enhancers	Fetal Intestine Small	intestine
36	chr4:3046400-3047400	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr4:3046400-3047400	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr4:3046400-3047400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr4:3046400-3047600	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr4:3046400-3047800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr4:3046400-3048200	Enhancers	Primary hematopoietic stem cells	blood
42	chr4:3046400-3048200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr4:3046400-3048200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:3046400-3048400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr4:3046400-3048400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:3046600-3047200	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr4:3046600-3047200	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr4:3046600-3047400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:3046600-3047400	Enhancers	Spleen	Spleen
50	chr4:3046600-3047400	Enhancers	K562	blood

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