Variant report

Variant	rs60383019
Chromosome Location	chr2:211338337-211338338
allele	A/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	chr2:211338285-211338917	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:211338164-211338455	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:211325572..211327768-chr2:211338184..211340482,2	K562	blood:
2	chr2:211331262..211333648-chr2:211337873..211339942,2	MCF-7	breast:
3	chr2:211331048..211333465-chr2:211338330..211339916,2	MCF-7	breast:

Variant related genes	Relation type
CPS1	TF binding region

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

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

rs_ID	r²[population]
rs58412393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6723779	1.00[AMR][1000 genomes]
rs73067692	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069762	1.00[AFR][1000 genomes];1.00[AMR][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	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211295000-211340600	Weak transcription	HUVEC	blood vessel
2	chr2:211296000-211340200	Weak transcription	Small Intestine	intestine
3	chr2:211296400-211341000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:211301200-211340200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:211301200-211340600	Weak transcription	Fetal Intestine Small	intestine
6	chr2:211301200-211340800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:211315400-211340000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:211315600-211339600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:211316600-211339000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:211316800-211338800	Strong transcription	Dnd41	blood
11	chr2:211322400-211340400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:211322600-211340400	Weak transcription	K562	blood
13	chr2:211323400-211340200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:211324800-211339000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:211325800-211340800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:211326800-211338800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:211326800-211339800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:211327400-211339000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:211327600-211339000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:211329800-211338400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:211329800-211339200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:211331400-211340400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:211331400-211340400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:211331400-211341000	Weak transcription	Spleen	Spleen
25	chr2:211332000-211340800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:211332200-211340400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:211332600-211340400	Weak transcription	Right Ventricle	heart
28	chr2:211333400-211340400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:211333600-211340600	Weak transcription	Psoas Muscle	Psoas
30	chr2:211333600-211340800	Weak transcription	Esophagus	oesophagus
31	chr2:211333600-211340800	Weak transcription	Lung	lung
32	chr2:211333600-211340800	Weak transcription	Pancreas	Pancrea
33	chr2:211333600-211341000	Weak transcription	Gastric	stomach
34	chr2:211333800-211340200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:211334000-211339600	Weak transcription	Fetal Brain Male	brain
36	chr2:211334000-211340200	Weak transcription	HSMMtube	muscle
37	chr2:211334400-211340200	Weak transcription	HMEC	breast
38	chr2:211334400-211340400	Weak transcription	NHDF-Ad	bronchial
39	chr2:211334400-211340600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr2:211335000-211340200	Weak transcription	Fetal Kidney	kidney
41	chr2:211335000-211340400	Weak transcription	Fetal Heart	heart
42	chr2:211335200-211338400	Strong transcription	Fetal Muscle Leg	muscle
43	chr2:211335200-211340800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:211335400-211338400	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:211335400-211338600	Strong transcription	Primary hematopoietic stem cells	blood
46	chr2:211336200-211338600	Genic enhancers	Brain Angular Gyrus	brain
47	chr2:211336600-211339600	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:211336800-211338400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:211336800-211338600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:211336800-211338800	Weak transcription	Osteobl	bone

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