Variant report

Variant	rs16861035
Chromosome Location	chr4:48139765-48139766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:48139451-48140203	GM12891	blood:	n/a	n/a
2	POLR2A	chr4:48139666-48140134	GM12891	blood:	n/a	n/a
3	POLR2A	chr4:48139566-48140027	GM12878	blood:	n/a	n/a
4	POLR2A	chr4:48139345-48141304	GM12892	blood:	n/a	n/a
5	POLR2A	chr4:48139749-48140119	GM12891	blood:	n/a	n/a
6	POLR2A	chr4:48139673-48140234	GM12892	blood:	n/a	n/a
7	POLR2A	chr4:48139379-48140215	GM12892	blood:	n/a	n/a
8	POLR2A	chr4:48139471-48140206	GM12878	blood:	n/a	n/a
9	POLR2A	chr4:48139684-48140135	GM12892	blood:	n/a	n/a
10	POLR2A	chr4:48137778-48141212	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48139300..48141926-chr4:48270547..48272865,2	MCF-7	breast:
2	chr4:48131478..48133698-chr4:48139197..48141386,3	K562	blood:

Variant related genes	Relation type
TXK	TF binding region
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1466997	0.91[YRI][hapmap]
rs16861048	1.00[AMR][1000 genomes]
rs17470892	0.87[YRI][hapmap]
rs17574371	1.00[YRI][hapmap]
rs996222	0.87[YRI][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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48129800-48140800	Weak transcription	Fetal Stomach	stomach
2	chr4:48129800-48157400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:48130400-48139800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:48130400-48152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:48130400-48155400	Weak transcription	Psoas Muscle	Psoas
6	chr4:48130400-48156200	Weak transcription	Adipose Nuclei	Adipose
7	chr4:48130400-48156800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:48130400-48157600	Weak transcription	Colonic Mucosa	Colon
9	chr4:48130600-48142800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:48130600-48146000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:48131800-48141400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:48131800-48142000	Weak transcription	NHLF	lung
13	chr4:48132000-48141400	Weak transcription	HUVEC	blood vessel
14	chr4:48132000-48141600	Weak transcription	NHDF-Ad	bronchial
15	chr4:48132000-48157000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:48132000-48157200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:48132200-48139800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:48132200-48141800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:48132400-48142000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:48132600-48140200	Weak transcription	Right Ventricle	heart
21	chr4:48132600-48141000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:48133000-48141800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:48133000-48151400	Weak transcription	HSMMtube	muscle
24	chr4:48133000-48153000	Weak transcription	Placenta	Placenta
25	chr4:48133200-48140400	Weak transcription	Left Ventricle	heart
26	chr4:48133200-48141000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:48133200-48141800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr4:48134600-48140600	Weak transcription	Fetal Kidney	kidney
29	chr4:48134800-48141400	Weak transcription	Fetal Brain Male	brain
30	chr4:48135400-48140400	Strong transcription	GM12878-XiMat	blood
31	chr4:48135400-48142200	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr4:48135600-48142800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr4:48136000-48140400	Weak transcription	Small Intestine	intestine
34	chr4:48136000-48140600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:48136000-48141000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr4:48136400-48139800	Strong transcription	Primary hematopoietic stem cells	blood
37	chr4:48136400-48139800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr4:48136400-48141200	Strong transcription	K562	blood
39	chr4:48136600-48139800	Enhancers	Primary T cells fromperipheralblood	blood
40	chr4:48136600-48139800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr4:48136800-48139800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr4:48136800-48140600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr4:48137000-48139800	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr4:48137000-48141200	Strong transcription	Liver	Liver
45	chr4:48137000-48141400	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr4:48137400-48140800	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr4:48137600-48139800	Genic enhancers	Fetal Thymus	thymus
48	chr4:48137600-48139800	Strong transcription	Spleen	Spleen
49	chr4:48137600-48141200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:48137800-48139800	Strong transcription	Lung	lung

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